Search

Your search keyword '"van de Kamp, Jiddeke"' showing total 168 results
Start Over Author "van de Kamp, Jiddeke"
168 results on '"van de Kamp, Jiddeke"'

2. The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis

Author

Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei-Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H. W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin-ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J. H., Pennings, Ronald, and Liu, Xue Zhong

Published
2024
Full Text
View/download PDF

3. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

Author

Bosch, Elisabeth, Popp, Bernt, Güse, Esther, Skinner, Cindy, van der Sluijs, Pleuntje J., Maystadt, Isabelle, Pinto, Anna Maria, Renieri, Alessandra, Bruno, Lucia Pia, Granata, Stefania, Marcelis, Carlo, Baysal, Özlem, Hartwich, Dewi, Holthöfer, Laura, Isidor, Bertrand, Cogne, Benjamin, Wieczorek, Dagmar, Capra, Valeria, Scala, Marcello, De Marco, Patrizia, Ognibene, Marzia, Jamra, Rami Abou, Platzer, Konrad, Carter, Lauren B., Kuismin, Outi, van Haeringen, Arie, Maroofian, Reza, Valenzuela, Irene, Cuscó, Ivon, Martinez-Agosto, Julian A., Rabani, Ahna M., Mefford, Heather C., Pereira, Elaine M., Close, Charlotte, Anyane-Yeboa, Kwame, Wagner, Mallory, Hannibal, Mark C., Zacher, Pia, Thiffault, Isabelle, Beunders, Gea, Umair, Muhammad, Bhola, Priya T., McGinnis, Erin, Millichap, John, van de Kamp, Jiddeke M., Prijoles, Eloise J., Dobson, Amy, Shillington, Amelle, Graham, Brett H., Garcia, Evan-Jacob, Galindo, Maureen Kelly, Ropers, Fabienne G., Nibbeling, Esther A.R., Hubbard, Gail, Karimov, Catherine, Goj, Guido, Bend, Renee, Rath, Julie, Morrow, Michelle M., Millan, Francisca, Salpietro, Vincenzo, Torella, Annalaura, Nigro, Vincenzo, Kurki, Mitja, Stevenson, Roger E., Santen, Gijs W.E., Zweier, Markus, Campeau, Philippe M., Severino, Mariasavina, Reis, André, Accogli, Andrea, and Vasileiou, Georgia

Published
2023
Full Text
View/download PDF

4. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Author

Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, and Stuurman, KE

Subjects
DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network, Cancer, Rare Diseases, Human Genome, Pediatric Research Initiative, Genetics, Biotechnology, 2.1 Biological and endogenous factors
Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

Published
2020

5. The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss:an international, multi-center, cohort analysis

Author

Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H.W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin Ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J.H., Pennings, Ronald, Liu, Xue Zhong, Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H.W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin Ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J.H., Pennings, Ronald, and Liu, Xue Zhong

Abstract

TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with significant differences in hearing thresholds between those with missense variants versus those with loss-of-function genotypes. The hearing loss progression rate for the DFNB8 subtype was 0.3 dB/year. Post-cochlear implantation, an average word recognition score of 76% was observed. Of the 51 individuals with two missense variants, 10 had DFNB10 with profound hearing loss. These 10 all had at least one of 4 TMPRSS3 variants predicted by computational modeling to be damaging to TMPRSS3 structure and function. To our knowledge, this is the largest study of TMPRSS3 genotype–phenotype correlations. We find significant differences in hearing thresholds, hearing loss progression, and age of presentation, by TMPRSS3 genotype and protein domain affected. Most individuals with TMPRSS3 variants perform well on speech recognition tests after cochlear implant, however increased age at implant is associated with worse outcomes. These findings provide insight for genetic counseling and the on-going design of novel therapeutic approaches.

Published
2024

6. SLC26A1 is a major determinant of sulfate homeostasis in humans

Author

Pfau, Anja, Lopez-Cayuqueo, Karen I., Scherer, Nora, Wuttke, Matthias, Wernstedt, Annekatrin, Fassrainer, Daniela Gonzalez, Smith, Desiree E.C., van de Kamp, Jiddeke M., Ziegeler, Katharina, Eckardt, Kai-Uwe, Luft, Friedrich C., Aronson, Peter S., Kottgen, Anna, Jentsch, Thomas J., and Knauf, Felix

Subjects
Metabolic regulation -- Genetic aspects -- Health aspects, Homeostasis -- Research -- Genetic aspects -- Health aspects, Carrier proteins -- Physiological aspects -- Health aspects -- Genetic aspects, Sulfates -- Physiological aspects -- Health aspects, Health care industry
Abstract

Sulfate plays a pivotal role in numerous physiological processes in the human body, including bone and cartilage health. A role of the anion transporter SLC26A1 (Sat1) for sulfate reabsorption in the kidney is supported by the observation of hyposulfatemia and hypersulfaturia in Slc26a1-knockout mice. The impact of SLC26A1 on sulfate homeostasis in humans remains to be defined. By combining clinical genetics, functional expression assays, and population exome analysis, we identify SLC26A1 as a sulfate transporter in humans and experimentally validate several loss-of-function alleles. Whole-exome sequencing from a patient presenting with painful perichondritis, hyposulfatemia, and renal sulfate wasting revealed a homozygous mutation in SLC26A1, which has not been previously described to the best of our knowledge. Whole-exome data analysis of more than 5,000 individuals confirmed that rare, putatively damaging SCL26A1 variants were significantly associated with lower plasma sulfate at the population level. Functional expression assays confirmed a substantial reduction in sulfate transport for the SLC26A1 mutation of our patient, which we consider to be novel, as well as for the additional variants detected in the population study. In conclusion, combined evidence from 3 complementary approaches supports SLC26A1 activity as a major determinant of sulfate homeostasis in humans. In view of recent evidence linking sulfate homeostasis with back pain and intervertebral disc disorder, our study identifies SLC26A1 as a potential target for modulation of musculoskeletal health., Introduction Sulfate is involved in numerous metabolic processes in humans. However, it is not measured as part of routine clinical chemistry tests, and few specialized laboratories provide this service. Therefore, [...]

Published
2023
Full Text
View/download PDF

7. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Author

Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, and Bhoj, Elizabeth

Published
2020
Full Text
View/download PDF

8. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., and Kamsteeg, Erik-Jan

Published
2020
Full Text
View/download PDF

9. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

Author

Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, DOOFNL Consortium, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., and Kremer, Hannie

Published
2019
Full Text
View/download PDF

10. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

Author

Bosch, Elisabeth, primary, Popp, Bernt, additional, Güse, Esther, additional, Skinner, Cindy, additional, van der Sluijs, Pleuntje J., additional, Maystadt, Isabelle, additional, Pinto, Anna Maria, additional, Renieri, Alessandra, additional, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Marcelis, Carlo, additional, Baysal, Özlem, additional, Hartwich, Dewi, additional, Holthöfer, Laura, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Wieczorek, Dagmar, additional, Capra, Valeria, additional, Scala, Marcello, additional, De Marco, Patrizia, additional, Ognibene, Marzia, additional, Jamra, Rami Abou, additional, Platzer, Konrad, additional, Carter, Lauren B., additional, Kuismin, Outi, additional, van Haeringen, Arie, additional, Maroofian, Reza, additional, Valenzuela, Irene, additional, Cuscò, Ivon, additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, Mefford, Heather C., additional, Pereira, Elaine M., additional, Close, Charlotte, additional, Anyane-Yeboa, Kwame, additional, Wagner, Mallory, additional, Hannibal, Mark C., additional, Zacher, Pia, additional, Thiffault, Isabelle, additional, Beunders, Gea, additional, Umair, Muhammad, additional, Bhola, Priya T., additional, McGinnis, Erin, additional, Millichap, John, additional, van de Kamp, Jiddeke M, additional, Prijoles, Eloise J., additional, Dobson, Amy, additional, Shillington, Amelle, additional, Graham, Brett H., additional, Garcia, Evan-Jacob, additional, Galindo, Maureen Kelly, additional, Ropers, Fabienne G., additional, Nibbeling, Esther AR, additional, Hubbard, Gail, additional, Karimov, Catherine, additional, Goj, Guido, additional, Bend, Renee, additional, Rath, Julie, additional, Morrow, Michelle M, additional, Millan, Francisca, additional, Salpietro, Vincenzo, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Kurki, Mitja, additional, Stevenson, Roger E, additional, Santen, Gijs W.E., additional, Zweier, Markus, additional, Campeau, Philippe M., additional, Severino, Mariasavina, additional, Reis, André, additional, Accogli, Andrea, additional, and Vasileiou, Georgia, additional

Published
2023
Full Text
View/download PDF

11. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy

Author

Genetica Sectie Metabole Diagnostiek, CMM Groep Bos, Genetica, Research UMC Utrecht, Brain, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Rumping, Lynne, Pouwels, Petra J.W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M.C., Waisfisz, Quinten, Jans, Judith J.M., Prinsen, Hubertus C.M.T., van de Kamp, Jiddeke M., van Hasselt, Peter M., Genetica Sectie Metabole Diagnostiek, CMM Groep Bos, Genetica, Research UMC Utrecht, Brain, Child Health, Metabole ziekten patientenzorg, Infection & Immunity, Rumping, Lynne, Pouwels, Petra J.W., Wolf, Nicole I., Rehmann, Holger, Wamelink, Mirjam M.C., Waisfisz, Quinten, Jans, Judith J.M., Prinsen, Hubertus C.M.T., van de Kamp, Jiddeke M., and van Hasselt, Peter M.

Published
2023

13. Biallelic variants in theSLC13A1sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Author

van de Kamp, Jiddeke M., primary, Bökenkamp, Arend, additional, Smith, Desiree E. C., additional, Wamelink, Mirjam M. C., additional, Jansen, Erwin E. W., additional, Struys, Eduard A., additional, Waisfisz, Quinten, additional, Verkleij, Marieke, additional, Hartmann, Michaela F., additional, Wang, Rong, additional, Wudy, Stefan A., additional, Paganini, Chiara, additional, Rossi, Antonio, additional, and Finken, Martijn J. J., additional

Published
2022
Full Text
View/download PDF

14. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Author

UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A L, Koene, Saskia, Robertson, Stephen P, Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M, Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O M, Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S, van Haaften, Gijs, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Deciphering Developmental Disorders Study, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W, Waisfisz, Quinten, O'Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S, Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A L, Koene, Saskia, Robertson, Stephen P, Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M, Weiss, Janneke M M, Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O M, Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D, Bicknell, Louise S, and van Haaften, Gijs

Abstract

Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as DNA replication, DNA transcription, and DNA repair in all eukaryotes. Human histone H4 is encoded by fourteen canonical histone H4 genes, all differing at the nucleotide level but encoding an invariant protein. Here, we present a cohort of 29 subjects with de novo missense variants in six H4 genes (H4C3, H4C4, H4C5, H4C6, H4C9, and H4C11) identified by whole-exome sequencing and matchmaking. All individuals present with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay, while non-neurological features are more variable. Ten amino acids are affected, six recurrently, and are all located within the H4 core or C-terminal tail. These variants cluster to specific regions of the core H4 globular domain, where protein-protein interactions occur with either other histone subunits or histone chaperones. Functional consequences of the identified variants were evaluated in zebrafish embryos, which displayed abnormal general development, defective head organs, and reduced body axis length, providing compelling evidence for the causality of the reported disorder(s). While multiple developmental syndromes have been linked to chromatin-associated factors, missense-bearing histone variants (e.g., H3 oncohistones) are only recently emerging as a major cause of pathogenicity. Our findings establish a broader involvement of H4 variants in developmental syndromes.

Published
2022

16. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Author

Tessadori, Federico, primary, Duran, Karen, additional, Knapp, Karen, additional, Fellner, Matthias, additional, Smithson, Sarah, additional, Beleza Meireles, Ana, additional, Elting, Mariet W., additional, Waisfisz, Quinten, additional, O’Donnell-Luria, Anne, additional, Nowak, Catherine, additional, Douglas, Jessica, additional, Ronan, Anne, additional, Brunet, Theresa, additional, Kotzaeridou, Urania, additional, Svihovec, Shayna, additional, Saenz, Margarita S., additional, Thiffault, Isabelle, additional, Del Viso, Florencia, additional, Devine, Patrick, additional, Rego, Shannon, additional, Tenney, Jessica, additional, van Haeringen, Arie, additional, Ruivenkamp, Claudia A.L., additional, Koene, Saskia, additional, Robertson, Stephen P., additional, Deshpande, Charulata, additional, Pfundt, Rolph, additional, Verbeek, Nienke, additional, van de Kamp, Jiddeke M., additional, Weiss, Janneke M.M., additional, Ruiz, Anna, additional, Gabau, Elisabeth, additional, Banne, Ehud, additional, Pepler, Alexander, additional, Bottani, Armand, additional, Laurent, Sacha, additional, Guipponi, Michel, additional, Bijlsma, Emilia, additional, Bruel, Ange-Line, additional, Sorlin, Arthur, additional, Willis, Mary, additional, Powis, Zoe, additional, Smol, Thomas, additional, Vincent-Delorme, Catherine, additional, Baralle, Diana, additional, Colin, Estelle, additional, Revencu, Nicole, additional, Calpena, Eduardo, additional, Wilkie, Andrew O.M., additional, Chopra, Maya, additional, Cormier-Daire, Valerie, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Niceta, Marcello, additional, Terracciano, Alessandra, additional, Specchio, Nicola, additional, Tartaglia, Marco, additional, Rio, Marlene, additional, Barcia, Giulia, additional, Rondeau, Sophie, additional, Colson, Cindy, additional, Bakkers, Jeroen, additional, Mace, Peter D., additional, Bicknell, Louise S., additional, and van Haaften, Gijs, additional

Published
2022
Full Text
View/download PDF

17. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Author

Steele, Jacqueline L., primary, Morrow, Michelle M., additional, Sarnat, Harvey B., additional, Alkhunaizi, Ebba, additional, Brandt, Tracy, additional, Chitayat, David A., additional, DeFilippo, Colette P., additional, Douglas, Ganka V., additional, Dubbs, Holly A., additional, Elloumi, Houda Zghal, additional, Glassford, Megan R., additional, Hannibal, Mark C., additional, Héron, Bénédicte, additional, Kim, Linda E., additional, Marco, Elysa J., additional, Mignot, Cyril, additional, Monaghan, Kristin G., additional, Myers, Kenneth A., additional, Parikh, Sumit, additional, Quinonez, Shane C., additional, Rajabi, Farrah, additional, Shankar, Suma P., additional, Shinawi, Marwan S., additional, van de Kamp, Jiddeke J.P., additional, Veerapandiyan, Aravindhan, additional, Waldman, Amy T., additional, and Graf, William D., additional

Published
2022
Full Text
View/download PDF

19. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Author

Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, Karen I., van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Bulman, Dennis E., Boycott, Kym M., and Lines, Matthew A.

Published
2016
Full Text
View/download PDF

20. Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.

Author

van de Kamp, Jiddeke M., Bökenkamp, Arend, Smith, Desiree E. C., Wamelink, Mirjam M. C., Jansen, Erwin E. W., Struys, Eduard A., Waisfisz, Quinten, Verkleij, Marieke, Hartmann, Michaela F., Wang, Rong, Wudy, Stefan A., Paganini, Chiara, Rossi, Antonio, and Finken, Martijn J. J.

Subjects
*OSTEOARTHRITIS, *SULFATES, *SKELETAL dysplasia, *DYSPLASIA, *SULFATION
Abstract

Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays an essential role in the modulation of numerous compounds, including proteoglycans and steroids. We report the first patient with a homozygous loss‐of‐function variant in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter, which is essential for maintaining plasma sulfate levels. The homozygous (Arg12Ter) variant in SLC13A1 was found by exome sequencing performed in a patient with unexplained skeletal dysplasia. The main clinical features were enlargement of joints and spondylo‐epi‐metaphyseal radiological abnormalities in early childhood, which improved with age. In addition, autistic features were noted. We found profound hyposulfatemia due to complete loss of renal sulfate reabsorption. Cholesterol sulfate was reduced. Intravenous N‐acetylcysteine administration temporarily restored plasma sulfate levels. We conclude that loss of the SLC13A1 gene leads to profound hypersulfaturia and hyposulfatemia, which is mainly associated with abnormal skeletal development, possibly predisposing to degenerative bone and joint disease. The diagnosis might be easily missed and more frequent. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

25. Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

Author

Bassani, Sissy, primary, van Beelen, Edward, additional, Rossel, Mireille, additional, Voisin, Norine, additional, Morgan, Anna, additional, Arribat, Yoan, additional, Chatron, Nicolas, additional, Chrast, Jacqueline, additional, Cocca, Massimiliano, additional, Delprat, Benjamin, additional, Faletra, Flavio, additional, Giannuzzi, Giuliana, additional, Guex, Nicolas, additional, Machavoine, Roxane, additional, Pradervand, Sylvain, additional, Smits, Jeroen J, additional, van de Kamp, Jiddeke M, additional, Ziegler, Alban, additional, Amati, Francesca, additional, Marlin, Sandrine, additional, Kremer, Hannie, additional, Locher, Heiko, additional, Maurice, Tangui, additional, Gasparini, Paolo, additional, Girotto, Giorgia, additional, and Reymond, Alexandre, additional

Published
2021
Full Text
View/download PDF

26. Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

Author

Chen, Tingfang, primary, Rohacek, Alex M., additional, Caporizzo, Matthew, additional, Nankali, Amir, additional, Smits, Jeroen J., additional, Oostrik, Jaap, additional, Lanting, Cornelis P., additional, Kücük, Erdi, additional, Gilissen, Christian, additional, van de Kamp, Jiddeke M., additional, Pennings, Ronald J.E., additional, Rakowiecki, Staci M., additional, Kaestner, Klaus H., additional, Ohlemiller, Kevin K., additional, Oghalai, John S., additional, Kremer, Hannie, additional, Prosser, Benjamin L., additional, and Epstein, Douglas J., additional

Published
2021
Full Text
View/download PDF

28. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Projectafdeling ALS, ZL Neuromusculaire Ziekten Medisch, Brain, Regenerative Medicine and Stem Cells, Genetica, Genetica Klinische Genetica, Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P.P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G.J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M.H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B.A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Kamsteeg, Erik Jan, Projectafdeling ALS, ZL Neuromusculaire Ziekten Medisch, Brain, Regenerative Medicine and Stem Cells, Genetica, Genetica Klinische Genetica, Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P.P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G.J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M.H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B.A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., and Kamsteeg, Erik Jan

Published
2020

29. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Author

Angel, Ashikov, Nurulamin, Abu Bakar, Xiao-Yan, Wen, Marco, Niemeijer, Glentino, Rodrigues Pinto Osorio, Koroboshka, Brand-Arzamendi, Linda, Hasadsri, Hana, Hansikova, Kimiyo, Raymond, Dorothée, Vicogne, Nina, Ondruskova, Marleen E H, Simon, Rolph, Pfundt, Sharita, Timal, Roel, Beumers, Christophe, Biot, Roel, Smeets, Marjan, Kersten, Karin, Huijben, Peter T A, Linders, Geert, van den Bogaart, Sacha A F T, van Hijum, Richard, Rodenburg, Lambertus P, van den Heuvel, Francjan, van Spronsen, Tomas, Honzik, Francois, Foulquier, Monique, van Scherpenzeel, Dirk J, Lefeber, Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, van Hasselt, Peter, van de Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Brocke Holmefjord, Katja, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Te Water Naude, Johann, Center for Liver, Digestive and Metabolic Diseases (CLDM), Department of Medicine & Physiology , University of Toronto, First Faculty of Medicine, Charles University [Prague] (CU), Université Lille Nord de France (COMUE), University Medical Center [Utrecht], Department of Human Genetics, Radboud University Medical Center [Nijmegen], Unité de Catalyse et Chimie du Solide - UMR 8181 (UCCS), Centrale Lille Institut (CLIL)-Université d'Artois (UA)-Centrale Lille-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Lille, Paediatrics, Beatrix Children's Hospital/University Medical Center Groningen, Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Charles University [Prague], Unité de Catalyse et de Chimie du Solide - UMR 8181 (UCCS), Université d'Artois (UA)-Ecole Centrale de Lille-Ecole Nationale Supérieure de Chimie de Lille (ENSCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA), Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, NCA - Brain mechanisms in health and disease, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Université d'Artois (UA)-Centrale Lille-Institut de Chimie du CNRS (INC)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), and Université de Lille-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, 0301 basic medicine, N-GLYCAN, HOMEOSTASIS, Glycosylation, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], [SDV]Life Sciences [q-bio], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Golgi Apparatus, Compound heterozygosity, DISEASE, Cohort Studies, Congenital Disorders of Glycosylation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Missense mutation, Genetics(clinical), Exome, Glycomics, Zebrafish, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, Genetics (clinical), Genetics & Heredity, chemistry.chemical_classification, SEVERE INTELLECTUAL DISABILITY, Symporters, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, DEFECTS, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Pedigree, Cell biology, Transport protein, DEFICIENCY, Protein Transport, Phenotype, symbols, Female, ENAMEL, Life Sciences & Biomedicine, Adult, Biochemistry & Molecular Biology, DISORDERS, Organic Anion Transporters, Sodium-Dependent, PHENOTYPES, DIAGNOSIS, TRANSFERRIN, Young Adult, 03 medical and health sciences, symbols.namesake, All institutes and research themes of the Radboud University Medical Center, Calcification, Physiologic, Genetics, Animals, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, BIOSYNTHESIS, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Molecular Biology, Bone Diseases, Developmental, Science & Technology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, Infant, Heterozygote advantage, Fibroblasts, Golgi apparatus, biology.organism_classification, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, chemistry, Mutation, Glycoprotein
Abstract

Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals. To identify additional genetic factors, hierarchical clustering of the plasma glycomics data was done, which indicated a subgroup of four patients that shared a unique glycomics signature of hybrid type N-glycans. In two siblings, compound heterozygous mutations were found in SLC10A7, a gene of unknown function in human. These included a missense mutation that disrupted transmembrane domain 4 and a mutation in a splice acceptor site resulting in skipping of exon 9. The two other individuals showed a complete loss of SLC10A7 mRNA. The patients' phenotype consisted of amelogenesis imperfecta, skeletal dysplasia, and decreased bone mineral density compatible with osteoporosis. The patients' phenotype was mirrored in SLC10A7 deficient zebrafish. Furthermore, alizarin red staining of calcium deposits in zebrafish morphants showed a strong reduction in bone mineralization. Cell biology studies in fibroblasts of affected individuals showed intracellular mislocalization of glycoproteins and a defect in post-Golgi transport of glycoproteins to the cell membrane. In contrast to yeast, human SLC10A7 localized to the Golgi. Our combined data indicate an important role for SLC10A7 in bone mineralization and transport of glycoproteins to the extracellular matrix. ispartof: HUMAN MOLECULAR GENETICS vol:27 issue:17 pages:3029-3045 ispartof: location:England status: published

Published
2018
Full Text
View/download PDF

33. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Author

Ashikov, Angel, Bakar, Nurulamin Abu, Wen, Xiao Yan, Niemeijer, Marco, Osorio, Glentino Rodrigues Pinto, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E.H., Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T.A., Van Den Bogaart, Geert, Van Hijum, Sacha A.F.T., Rodenburg, Richard, Van Den Heuvel, Lambertus P., Van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, Van Scherpenzeel, Monique, Lefeber, Dirk J., Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, Van Hasselt, Peter, Van De Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Holmefjord, Katja Brocke, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Naude, Johann Te Water, and CDG group

Subjects
Genetics, Genetics(clinical), Molecular Biology
Abstract

Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with highthroughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals. To identify additional genetic factors, hierarchical clustering of the plasma glycomics data was done, which indicated a subgroup of four patients that shared a unique glycomics signature of hybrid type N-glycans. In two siblings, compound heterozygous mutations were found in SLC10A7, a gene of unknown function in human. These included a missense mutation that disrupted transmembrane domain 4 and a mutation in a splice acceptor site resulting in skipping of exon 9. The two other individuals showed a complete loss of SLC10A7 mRNA. The patients' phenotype consisted of amelogenesis imperfecta, skeletal dysplasia, and decreased bone mineral density compatible with osteoporosis. The patients' phenotype was mirrored in SLC10A7 deficient zebrafish. Furthermore, alizarin red staining of calcium deposits in zebrafish morphants showed a strong reduction in bone mineralization. Cell biology studies in fibroblasts of affected individuals showed intracellular mislocalization of glycoproteins and a defect in post-Golgi transport of glycoproteins to the cell membrane. In contrast to yeast, human SLC10A7 localized to the Golgi. Our combined data indicate an important role for SLC10A7 in bone mineralization and transport of glycoproteins to the extracellular matrix.

Published
2018

34. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Pennings, Maartje, primary, Schouten, Meyke I., additional, van Gaalen, Judith, additional, Meijer, Rowdy P. P., additional, de Bot, Susanne T., additional, Kriek, Marjolein, additional, Saris, Christiaan G. J., additional, van den Berg, Leonard H., additional, van Es, Michael A., additional, Zuidgeest, Dick M. H., additional, Elting, Mariet W., additional, van de Kamp, Jiddeke M., additional, van Spaendonck-Zwarts, Karin Y., additional, Die-Smulders, Christine de, additional, Brilstra, Eva H., additional, Verschuuren, Corien C., additional, de Vries, Bert B. A., additional, Bruijn, Jacques, additional, Sofou, Kalliopi, additional, Duijkers, Floor A., additional, Jaeger, B., additional, Schieving, Jolanda H., additional, van de Warrenburg, Bart P., additional, and Kamsteeg, Erik-Jan, additional

Published
2019
Full Text
View/download PDF

35. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

Author

Genetica, Genetica Klinische Genetica, Cluster C, Metabole ziekten patientenzorg, Child Health, Ashikov, Angel, Bakar, Nurulamin Abu, Wen, Xiao Yan, Niemeijer, Marco, Osorio, Glentino Rodrigues Pinto, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E.H., Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T.A., Van Den Bogaart, Geert, Van Hijum, Sacha A.F.T., Rodenburg, Richard, Van Den Heuvel, Lambertus P., Van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, Van Scherpenzeel, Monique, Lefeber, Dirk J., Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, Van Hasselt, Peter, Van De Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Holmefjord, Katja Brocke, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Naude, Johann Te Water, CDG group, Genetica, Genetica Klinische Genetica, Cluster C, Metabole ziekten patientenzorg, Child Health, Ashikov, Angel, Bakar, Nurulamin Abu, Wen, Xiao Yan, Niemeijer, Marco, Osorio, Glentino Rodrigues Pinto, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E.H., Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T.A., Van Den Bogaart, Geert, Van Hijum, Sacha A.F.T., Rodenburg, Richard, Van Den Heuvel, Lambertus P., Van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, Van Scherpenzeel, Monique, Lefeber, Dirk J., Wamelink, Mirjam, Brunner, Han, Mundy, Helen, Michelakakis, Helen, Van Hasselt, Peter, Van De Kamp, Jiddeke, Martinelli, Diego, Morkrid, Lars, Holmefjord, Katja Brocke, Hertecant, Jozef, Alfadhel, Majid, Carpenter, Kevin, Naude, Johann Te Water, and CDG group

Published
2018

36. The role of the clinician in the multi-omics era: are you ready?

Author

van Karnebeek, Clara D. M., primary, Wortmann, Saskia B., additional, Tarailo-Graovac, Maja, additional, Langeveld, Mirjam, additional, Ferreira, Carlos R., additional, van de Kamp, Jiddeke M., additional, Hollak, Carla E., additional, Wasserman, Wyeth W., additional, Waterham, Hans R., additional, Wevers, Ron A., additional, Haack, Tobias B., additional, Wanders, Ronald J.A., additional, and Boycott, Kym M., additional

Published
2018
Full Text
View/download PDF

37. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Author

Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G, Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, and Yntema, Helger G

Published
2017

38. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Author

Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., Maugeri, A., Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., and Maugeri, A.

Published
2017

39. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E

Published
2017

40. NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Author

CMM Groep De Ridder, UMC Utrecht, Genetica Klinische Genetica, Child Health, Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., Maugeri, A., CMM Groep De Ridder, UMC Utrecht, Genetica Klinische Genetica, Child Health, Overwater, Eline, Floor, K., van Beek, D., Boer, K., van Dijk, T.B., Hilhorst-Hofstee, Y., Hoogeboom, A. Jeannette M, van Kaam, K. J., van de Kamp, Jiddeke M, Kempers, M., Krapels, Ingrid P C, Kroes, H. Y., Loeys, B.L., Salemink, S., Stumpel, Connie T R M, Verhoeven, Virginie J M, Wijnands-van den Berg, E., Cobben, J.M., van Tintelen, J. Peter, Weiss, M., Houweling, A. C., and Maugeri, A.

Published
2017

41. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Author

Genetica Klinische Genetica, Child Health, Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G, Genetica Klinische Genetica, Child Health, Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald Jc, Pennings, Ronald Je, Kunst, Henricus Pm, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia Am, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna Gm, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie-José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, and Yntema, Helger G

Published
2017

42. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E

Published
2017

43. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

Author

Beunders, Gea, van de Kamp, Jiddeke, Vasudevan, Pradeep, Morton, Jenny, Smets, Katrien, Kleefstra, Tjitske, de Munnik, Sonja A., Schuurs-Hoeijmakers, Janneke, Ceulemans, Berten, Zollino, Marcella, Hoffjan, Sabine, Wieczorek, Stefan, So, Joyce, Mercer, Leanne, Walker, Tanya, Velsher, Lea, Parker, Michael J., Magee, Alex C., Elffers, Bart, Frank Kooy, R., Yntema, Helger G., Meijers-Heijboer, Elizabeth J., Sistermans, Erik A., The DDD study, DDD study, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and DDD Study

Subjects
0301 basic medicine, Male, Pediatrics, Microcephaly, Haploinsufficiency, Settore MED/03 - GENETICA MEDICA, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Intellectual disability, Developmental, Copy-number variation, Child, Genetics (clinical), Sequence Deletion, Genetics, Psychiatry, Mental Disorders, Exons, Syndrome, Middle Aged, Phenotype, Child, Preschool, Medical genetics, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Copy-number, Biology, Clinical genetics, 03 medical and health sciences, Young Adult, Molecular genetics, Intellectual Disability, medicine, Humans, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, Proteins, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, Mutation, Autism, Human medicine, Transcription Factors
Abstract

Item does not contain fulltext BACKGROUND: AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. METHODS: We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation or deletion in AUTS2. All patients were systematically evaluated by the same clinical geneticist. RESULTS: All patients have borderline to severe ID/developmental delay, 83-100% have microcephaly and feeding difficulties. Congenital malformations are rare, but mild heart defects, contractures and genital malformations do occur. There are no major health issues in the adults; the oldest of whom is now 59 years of age. Behaviour is marked by it is a friendly outgoing social interaction. Specific features of autism (like obsessive behaviour) are seen frequently (83%), but classical autism was not diagnosed in any. A mild clinical phenotype is associated with a small in-frame 5' deletions, which are often inherited. Deletions and other mutations causing haploinsufficiency of the full-length AUTS2 transcript give a more severe phenotype and occur de novo. CONCLUSIONS: The 13 patients with AUTS2 syndrome with unique pathogenic deletions scattered around the AUTS2 locus confirm a phenotype-genotype correlation. Despite individual variations, AUTS2 syndrome emerges as a specific ID syndrome with microcephaly, feeding difficulties, dysmorphic features and a specific behavioural phenotype.

Published
2016
Full Text
View/download PDF

44. Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Author

Wesdorp, Mieke, primary, van de Kamp, Jiddeke M., additional, Hensen, Erik F., additional, Schraders, Margit, additional, Oostrik, Jaap, additional, Yntema, Helger G., additional, Feenstra, Ilse, additional, Admiraal, Ronald J.C., additional, Kunst, Henricus P.M., additional, Tekin, Mustafa, additional, Kanaan, Moien, additional, Kremer, Hannie, additional, and Pennings, Ronald J.E., additional

Published
2017
Full Text
View/download PDF

45. A second cohort of CHD3patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Author

Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, and Bhoj, Elizabeth

Abstract

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.

Published
2020
Full Text
View/download PDF

46. KIF1Avariants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Author

Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., and Kamsteeg, Erik-Jan

Abstract

Variants in the KIF1Agene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9. More recently, variants in KIF1Ahave also been described in a few cases with autosomal dominant spastic paraplegia. Here, we describe 20 KIF1Avariants in 24 patients from a clinical exome sequencing cohort of 347 individuals with a mostly ‘pure’ spastic paraplegia. In these patients, spastic paraplegia was slowly progressive and mostly pure, but with a highly variable disease onset (0–57 years). Segregation analyses showed a de novo occurrence in seven cases, and a dominant inheritance pattern in 11 families. The motor domain of KIF1A is a hotspot for disease causing variants in autosomal dominant spastic paraplegia, similar to mental retardation type 9 and recessive spastic paraplegia type 30. However, unlike these allelic disorders, dominant spastic paraplegia was also caused by loss-of-function variants outside this domain in six families. Finally, three missense variants were outside the motor domain and need further characterization. In conclusion, KIF1Avariants are a frequent cause of autosomal dominant spastic paraplegia in our cohort (6–7%). The identification of KIF1Aloss-of-function variants suggests haploinsufficiency as a possible mechanism in autosomal dominant spastic paraplegia.

Published
2020
Full Text
View/download PDF

47. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.

Author

Vals, Mari‐Anne, Ashikov, Angel, Ilves, Pilvi, Loorits, Dagmar, Zeng, Qiang, Barone, Rita, Huijben, Karin, Sykut‐Cegielska, Jolanta, Diogo, Luísa, Elias, Abdallah F., Greenwood, Robert S., Grunewald, Stephanie, van Hasselt, Peter M., van de Kamp, Jiddeke M., Mancini, Grazia, Okninska, Agnieszka, Pajusalu, Sander, Rudd, Pauline M., Rustad, Cecilie F., and Salvarinova, Ramona

Abstract

SLC35A2‐CDG is caused by mutations in the X‐linked SLC35A2 gene encoding the UDP‐galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N‐glycans. SLC35A2‐CDG is characterized by severe neurological symptoms and, in many patients, early‐onset epileptic encephalopathy. In view of the diagnostic challenges, we studied the clinical, neuroradiological, and biochemical features of 15 patients (11 females and 4 males) with SLC35A2‐CDG from various centers. We describe nine novel pathogenic variations in SLC35A2. All affected individuals presented with a global developmental delay, and hypotonia, while 70% were nonambulatory. Epilepsy was present in 80% of the patients, and in EEG hypsarrhythmia and findings consistent with epileptic encephalopathy were frequently seen. The most common brain MRI abnormality was cerebral atrophy with delayed myelination and multifocal inhomogeneous abnormal patchy white matter hyperintensities, which seemed to be nonprogressive. Thin corpus callosum was also common, and all the patients had a corpus callosum shorter than normal for their age. Variable dysmorphic features and growth deficiency were noted. Biochemically, normal mucin type O‐glycosylation and lipid glycosylation were found, while transferrin mass spectrometry was found to be more specific in the identification of SLC35A2‐CDG, as compared to routine screening tests. Although normal glycosylation studies together with clinical variability and genetic results complicate the diagnosis of SLC35A2‐CDG, our data indicate that the combination of these three elements can support the pathogenicity of mutations in SLC35A2. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

48. De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Author

DOOFNL Consortium, Beynon, Andy J., Admiraal, Ronald J. C., Lanting, Cornelis P., Smits, Jeroen J., Oostrik, Jaap, Pennings, Ronald J. E., Kremer, Hannie, Schraders, Margit, Yntema, Helger G., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, and Feenstra, Ilse

Subjects
HEARING disorders, CELL membranes, CALCIUM ions, BIOLOGICAL variation, HOMEOSTASIS, HAIR cells
Abstract

ATP2B2 encodes the PMCA2 Ca2+ pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca2+ from the stereocilia to the endolymph. Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a rapidly progressive high-frequency hearing impairment. Up to now ATP2B2 has only been reported as a modifier, or in a digenic mechanism with CDH23 for hearing impairment in humans. Whole exome sequencing in hearing impaired index cases of Dutch and Polish origins revealed five novel heterozygous (predicted to be) loss-of-function variants of ATP2B2. Two variants, c.1963G>T (p.Glu655*) and c.955delG (p.Ala319fs), occurred de novo. Three variants c.397+1G>A (p.?), c.1998C>A (p.Cys666*), and c.2329C>T (p.Arg777*), were identified in families with an autosomal dominant inheritance pattern of hearing impairment. After normal newborn hearing screening, a rapidly progressive high-frequency hearing impairment was diagnosed at the age of about 3-6 years. Subjects had no balance complaints and vestibular testing did not yield abnormalities. There was no evidence for retrocochlear pathology or structural inner ear abnormalities. Although a digenic inheritance pattern of hearing impairment has been reported for heterozygous missense variants of ATP2B2 and CDH23, our findings indicate a monogenic cause of hearing impairment in cases with loss-of-function variants of ATP2B2. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

49. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Author

Zazo Seco, Celia, primary, Wesdorp, Mieke, additional, Feenstra, Ilse, additional, Pfundt, Rolph, additional, Hehir-Kwa, Jayne Y, additional, Lelieveld, Stefan H, additional, Castelein, Steven, additional, Gilissen, Christian, additional, de Wijs, Ilse J, additional, Admiraal, Ronald JC, additional, Pennings, Ronald JE, additional, Kunst, Henricus PM, additional, van de Kamp, Jiddeke M, additional, Tamminga, Saskia, additional, Houweling, Arjan C, additional, Plomp, Astrid S, additional, Maas, Saskia M, additional, de Koning Gans, Pia AM, additional, Kant, Sarina G, additional, de Geus, Christa M, additional, Frints, Suzanna GM, additional, Vanhoutte, Els K, additional, van Dooren, Marieke F, additional, van den Boogaard, Marie- José H, additional, Scheffer, Hans, additional, Nelen, Marcel, additional, Kremer, Hannie, additional, Hoefsloot, Lies, additional, Schraders, Margit, additional, and Yntema, Helger G, additional

Published
2016
Full Text
View/download PDF

50. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, Claire, primary, Brand, Harrison, additional, Collins, Ryan L, additional, Kammin, Tammy, additional, Mitchell, Elyse, additional, Hodge, Jennelle C, additional, Hanscom, Carrie, additional, Pillalamarri, Vamsee, additional, Seabra, Catarina M, additional, Abbott, Mary-Alice, additional, Abdul-Rahman, Omar A, additional, Aberg, Erika, additional, Adley, Rhett, additional, Alcaraz-Estrada, Sofia L, additional, Alkuraya, Fowzan S, additional, An, Yu, additional, Anderson, Mary-Anne, additional, Antolik, Caroline, additional, Anyane-Yeboa, Kwame, additional, Atkin, Joan F, additional, Bartell, Tina, additional, Bernstein, Jonathan A, additional, Beyer, Elizabeth, additional, Blumenthal, Ian, additional, Bongers, Ernie M H F, additional, Brilstra, Eva H, additional, Brown, Chester W, additional, Brüggenwirth, Hennie T, additional, Callewaert, Bert, additional, Chiang, Colby, additional, Corning, Ken, additional, Cox, Helen, additional, Cuppen, Edwin, additional, Currall, Benjamin B, additional, Cushing, Tom, additional, David, Dezso, additional, Deardorff, Matthew A, additional, Dheedene, Annelies, additional, D'Hooghe, Marc, additional, de Vries, Bert B A, additional, Earl, Dawn L, additional, Ferguson, Heather L, additional, Fisher, Heather, additional, FitzPatrick, David R, additional, Gerrol, Pamela, additional, Giachino, Daniela, additional, Glessner, Joseph T, additional, Gliem, Troy, additional, Grady, Margo, additional, Graham, Brett H, additional, Griffis, Cristin, additional, Gripp, Karen W, additional, Gropman, Andrea L, additional, Hanson-Kahn, Andrea, additional, Harris, David J, additional, Hayden, Mark A, additional, Hill, Rosamund, additional, Hochstenbach, Ron, additional, Hoffman, Jodi D, additional, Hopkin, Robert J, additional, Hubshman, Monika W, additional, Innes, A Micheil, additional, Irons, Mira, additional, Irving, Melita, additional, Jacobsen, Jessie C, additional, Janssens, Sandra, additional, Jewett, Tamison, additional, Johnson, John P, additional, Jongmans, Marjolijn C, additional, Kahler, Stephen G, additional, Koolen, David A, additional, Korzelius, Jerome, additional, Kroisel, Peter M, additional, Lacassie, Yves, additional, Lawless, William, additional, Lemyre, Emmanuelle, additional, Leppig, Kathleen, additional, Levin, Alex V, additional, Li, Haibo, additional, Li, Hong, additional, Liao, Eric C, additional, Lim, Cynthia, additional, Lose, Edward J, additional, Lucente, Diane, additional, Macera, Michael J, additional, Manavalan, Poornima, additional, Mandrile, Giorgia, additional, Marcelis, Carlo L, additional, Margolin, Lauren, additional, Mason, Tamara, additional, Masser-Frye, Diane, additional, McClellan, Michael W, additional, Mendoza, Cinthya J Zepeda, additional, Menten, Björn, additional, Middelkamp, Sjors, additional, Mikami, Liya R, additional, Moe, Emily, additional, Mohammed, Shehla, additional, Mononen, Tarja, additional, Mortenson, Megan E, additional, Moya, Graciela, additional, Nieuwint, Aggie W, additional, Ordulu, Zehra, additional, Parkash, Sandhya, additional, Pauker, Susan P, additional, Pereira, Shahrin, additional, Perrin, Danielle, additional, Phelan, Katy, additional, Aguilar, Raul E Piña, additional, Poddighe, Pino J, additional, Pregno, Giulia, additional, Raskin, Salmo, additional, Reis, Linda, additional, Rhead, William, additional, Rita, Debra, additional, Renkens, Ivo, additional, Roelens, Filip, additional, Ruliera, Jayla, additional, Rump, Patrick, additional, Schilit, Samantha L P, additional, Shaheen, Ranad, additional, Sparkes, Rebecca, additional, Spiegel, Erica, additional, Stevens, Blair, additional, Stone, Matthew R, additional, Tagoe, Julia, additional, Thakuria, Joseph V, additional, van Bon, Bregje W, additional, van de Kamp, Jiddeke, additional, van Der Burgt, Ineke, additional, van Essen, Ton, additional, van Ravenswaaij-Arts, Conny M, additional, van Roosmalen, Markus J, additional, Vergult, Sarah, additional, Volker-Touw, Catharina M L, additional, Warburton, Dorothy P, additional, Waterman, Matthew J, additional, Wiley, Susan, additional, Wilson, Anna, additional, Yerena-de Vega, Maria de la Concepcion A, additional, Zori, Roberto T, additional, Levy, Brynn, additional, Brunner, Han G, additional, de Leeuw, Nicole, additional, Kloosterman, Wigard P, additional, Thorland, Erik C, additional, Morton, Cynthia C, additional, Gusella, James F, additional, and Talkowski, Michael E, additional

Published
2016
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results