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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author

Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth

Published
2024
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2. Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Author

Karimi, Karim, Mol, Merel O., Haghshenas, Sadegheh, Relator, Raissa, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Brooks, Alice, Zonneveld-Huijssoon, Evelien, Gerkes, Erica H., Tedder, Matthew L., Vissers, Lisenka, Salzano, Emanuela, Piccione, Maria, Asaftei, Sebastian Dorin, Carli, Diana, Mussa, Alessandro, Shukarova-Angelovska, Elena, Trajkova, Slavica, Brusco, Alfredo, Merla, Giuseppe, Alders, Marielle M., Bouman, Arjan, and Sadikovic, Bekim

Published
2024
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3. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Author

Skraban, Cara M, Wells, Constance F, Markose, Preetha, Cho, Megan T, Nesbitt, Addie I, Au, PY Billie, Begtrup, Amber, Bernat, John A, Bird, Lynne M, Cao, Kajia, de Brouwer, Arjan PM, Denenberg, Elizabeth H, Douglas, Ganka, Gibson, Kristin M, Grand, Katheryn, Goldenberg, Alice, Innes, A Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M, Owens, Martina M, Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire LS, Verbeek, Nienke E, Walsh, Laurence E, Warner, Taylor C, Wheeler, Patricia G, Wieczorek, Dagmar, Wilkens, Alisha B, Zonneveld-Huijssoon, Evelien, Study, Deciphering Developmental Disorders, Kleefstra, Tjitske, Robertson, Stephen P, Santani, Avni, van Gassen, Koen LI, and Deardorff, Matthew A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Dental/Oral and Craniofacial Disease, Rare Diseases, Neurodegenerative, Epilepsy, Clinical Research, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Adaptor Proteins, Signal Transducing, Amino Acid Sequence, Base Sequence, Child, Preschool, Chromosome Deletion, Facies, Female, Gait, Growth and Development, Haploinsufficiency, Humans, Intellectual Disability, Male, Mutation, Proteins, RNA Stability, Seizures, Syndrome, Deciphering Developmental Disorders Study, WD-40, WDR protein, WDR26, intellectual disability, seizure, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.

Published
2017

6. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Author

Buijsse, Nathan, primary, Jansen, Floor E., additional, Ockeloen, Charlotte W., additional, van Kempen, Marjan J. A., additional, Zeidler, Shimriet, additional, Willemsen, Marjolein H., additional, Scarano, Emanuela, additional, Monticone, Sonia, additional, Zonneveld‐Huijssoon, Evelien, additional, Low, Karen J., additional, Bayat, Allan, additional, Sisodiya, Sanjay M., additional, Samanta, Debopam, additional, Lesca, Gaetan, additional, de Jong, Danielle, additional, Giltay, Jaqcues C., additional, Verbeek, Nienke E., additional, Kleefstra, Tjitske, additional, Brilstra, Eva H., additional, and Vlaskamp, Danique R. M., additional

Published
2023
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7. Germline AGO2 mutations impair RNA interference and human neurological development

Author

Lessel, Davor, Zeitler, Daniela M., Reijnders, Margot R. F., Kazantsev, Andriy, Hassani Nia, Fatemeh, Bartholomäus, Alexander, Martens, Victoria, Bruckmann, Astrid, Graus, Veronika, McConkie-Rosell, Allyn, McDonald, Marie, Lozic, Bernarda, Tan, Ee-Shien, Gerkes, Erica, Johannsen, Jessika, Denecke, Jonas, Telegrafi, Aida, Zonneveld-Huijssoon, Evelien, Lemmink, Henny H., Cham, Breana W. M., Kovacevic, Tanja, Ramsdell, Linda, Foss, Kimberly, Le Duc, Diana, Mitter, Diana, Syrbe, Steffen, Merkenschlager, Andreas, Sinnema, Margje, Panis, Bianca, Lazier, Joanna, Osmond, Matthew, Hartley, Taila, Mortreux, Jeremie, Busa, Tiffany, Missirian, Chantal, Prasun, Pankaj, Lüttgen, Sabine, Mannucci, Ilaria, Lessel, Ivana, Schob, Claudia, Kindler, Stefan, Pappas, John, Rabin, Rachel, Willemsen, Marjolein, Gardeitchik, Thatjana, Löhner, Katharina, Rump, Patrick, Dias, Kerith-Rae, Evans, Carey-Anne, Andrews, Peter Ian, Roscioli, Tony, Brunner, Han G., Chijiwa, Chieko, Lewis, M. E. Suzanne, Jamra, Rami Abou, Dyment, David A., Boycott, Kym M., Stegmann, Alexander P. A., Kubisch, Christian, Tan, Ene-Choo, Mirzaa, Ghayda M., McWalter, Kirsty, Kleefstra, Tjitske, Pfundt, Rolph, Ignatova, Zoya, Meister, Gunter, and Kreienkamp, Hans-Jürgen

Published
2020
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8. POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

Author

Rossi, Alessandra, primary, Blok, Lot Snijders, additional, Neuser, Sonja, additional, Klöckner, Chiara, additional, Platzer, Konrad, additional, Faivre, Laurence Olivier, additional, Weigand, Heike, additional, Dentici, Maria L., additional, Tartaglia, Marco, additional, Niceta, Marcello, additional, Alfieri, Paolo, additional, Srivastava, Siddharth, additional, Coulter, David, additional, Smith, Lacey, additional, Vinorum, Kristin, additional, Cappuccio, Gerarda, additional, Brunetti‐Pierri, Nicola, additional, Torun, Deniz, additional, Arslan, Mutluay, additional, Lauridsen, Mathilde F., additional, Murch, Oliver, additional, Irving, Rachel, additional, Lynch, Sally A., additional, Mehta, Sarju G., additional, Carmichael, Jenny, additional, Zonneveld‐Huijssoon, Evelien, additional, de Vries, Bert, additional, Kleefstra, Tjitske, additional, Johannesen, Katrine M., additional, Westphall, Ian T., additional, Hughes, Susan S., additional, Smithson, Sarah, additional, Evans, Julie, additional, Dudding‐Byth, Tracy, additional, Simon, Marleen, additional, van Binsbergen, Ellen, additional, Herkert, Johanna C., additional, Beunders, Gea, additional, Oppermann, Henry, additional, Bakal, Mert, additional, Møller, Rikke S., additional, Rubboli, Guido, additional, and Bayat, Allan, additional

Published
2023
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9. AA amyloidosis in a father and daughter as complication of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.

Author

Brunger, Anne F., Nienhuis, Hans L. A., Bijzet, Johan, Zonneveld-Huijssoon, Evelien, Sanders, Jan S. F., Legger, Geertje E., Gans, Reinold O.B, and Hazenberg, Bouke P. C.

Subjects
AMYLOIDOSIS, SYNDROMES, RHEUMATIC fever, GRANULOCYTE-colony stimulating factor, MEDICAL genetics, CARDIAC amyloidosis
Abstract

This document reports on two patients, a father and daughter, who both developed AA amyloidosis as a complication of the PAMI syndrome, which stands for PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome. The father had a history of various health issues, including acute rheumatic fever, furunculosis, and neutropenia. He eventually developed renal failure and died. The daughter experienced sterile pyogenic arthritis, neutropenia, and hepatosplenomegaly before developing renal failure and receiving a kidney transplant. Both patients were found to have a mutation in the PSTPIP1 gene. This case highlights the challenges in diagnosing AA amyloidosis and suggests that genetic testing for PSTPIP1 gene mutations should be considered in patients with unexplained neutropenia and a history of chronic inflammation. [Extracted from the article]

Published
2024
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10. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, AlZahrani, Mofareh S., Yilmaz, Elanur, AlIdrissi, Eman, van Aerde, Koen J., Alenezi, Njood, AlGhamdi, Hamza A., AlJubab, Hadeel A., Al-Hussaini, Abdulrahman A., AlManjomi, Fahad, Alsaad, Alaa B., Alsaleem, Badr, Andijani, Abdulrahman A., Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal P., van Deuren, Marcel, van der Flier, Michiel, Gerkes, Erica H., Gilissen, Christian, Habazi, Murad K., Hehir-Kwa, Jayne Y., Henriet, Stefanie S., Hoppenreijs, Esther P., Hortillosa, Sarah, Kerkhofs, Chantal H., Keski-Filppula, Riikka, Lelieveld, Stefan H., Lone, Khurram, MacKenzie, Marius A., Mensenkamp, Arjen R., Moilanen, Jukka, Nelen, Marcel, ten Oever, Jaap, Potjewijd, Judith, van Paassen, Pieter, Schuurs-Hoeijmakers, Janneke H. M., Simon, Anna, Stokowy, Tomasz, van de Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, van Well, Gijs T. J., Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris A., van Zelst-Stams, Wendy A. G., Faqeih, Eissa A., van de Veerdonk, Frank L., Netea, Mihai G., and Hoischen, Alexander

Published
2019
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11. Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Author

Hebert, Anne, primary, Simons, Annet, additional, Schuurs-Hoeijmakers, Janneke HM, additional, Koenen, Hans JPM, additional, Zonneveld-Huijssoon, Evelien, additional, Henriet, Stefanie SV, additional, Schatorjé, Ellen JH, additional, Hoppenreijs, Esther PAH, additional, Leenders, Erika KSM, additional, Janssen, Etienne JM, additional, Santen, Gijs WE, additional, de Munnik, Sonja A, additional, van Reijmersdal, Simon V, additional, van Rijssen, Esther, additional, Kersten, Simone, additional, Netea, Mihai G, additional, Smeets, Ruben L, additional, van de Veerdonk, Frank L, additional, Hoischen, Alexander, additional, and van der Made, Caspar I, additional

Published
2022
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12. Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Author

Hebert, Anne, primary, Simons, Annet, additional, Schuurs-Hoeijmakers, Janneke HM, additional, Koenen, Hans JPM, additional, Zonneveld-Huijssoon, Evelien, additional, Henriet, Stefanie SV, additional, Schatorjé, Ellen JH, additional, Hoppenreijs, Esther PAH, additional, Leenders, Erika KSM, additional, Janssen, Etienne JM, additional, Santen, Gijs WE, additional, de Munnik, Sonja A, additional, van Reijmersdal, Simon V, additional, van Rijssen, Esther, additional, Kersten, Simone, additional, Netea, Mihai G, additional, Smeets, Ruben L, additional, van de Veerdonk, Frank L, additional, Hoischen, Alexander, additional, and van der Made, Caspar I, additional

Published
2022
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13. B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Author

Houge, Gunnar, Haesen, Dorien, Vissers, Lisenka E.L.M., Mehta, Sarju, Parker, Michael J., Wright, Michael, Vogt, Julie, McKee, Shane, Tolmie, John L., Cordeiro, Nuno, Kleefstra, Tjitske, Willemsen, Marjolein H., Reijnders, Margot R.F., Berland, Siren, Hayman, Eli, Lahat, Eli, Brilstra, Eva H., van Gassen, Koen L.I., Zonneveld-Huijssoon, Evelien, de Bie, Charlotte I., Hoischen, Alexander, Eichler, Evan E., Holdhus, Rita, Steen, Vidar M., Døskeland, Stein Ove, Hurles, Matthew E., FitzPatrick, David R., and Janssens, Veerle

Published
2015
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18. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females

Author

Scala, Marcello, primary, Zonneveld-Huijssoon, Evelien, additional, Brienza, Marianna, additional, Mecarelli, Oriano, additional, van der Hout, Annemarie H., additional, Zambrelli, Elena, additional, Turner, Katherine, additional, Zara, Federico, additional, Peron, Angela, additional, Vignoli, Aglaia, additional, and Striano, Pasquale, additional

Published
2020
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19. National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Author

Elsink, Kim, primary, Huibers, Manon M. H., additional, Hollink, Iris H. I. M., additional, van der Veken, Lars T., additional, Ernst, Robert F., additional, Simons, Annet, additional, Zonneveld-Huijssoon, Evelien, additional, van der Hout, Annemieke H., additional, Abbott, Kristin M., additional, Hoischen, Alexander, additional, Pieterse, Marc, additional, Kuijpers, Taco W., additional, van Montfrans, Joris M., additional, and van Gijn, Mariëlle E., additional

Published
2020
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20. ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Author

Shinar, Yael, primary, Ceccherini, Isabella, primary, Rowczenio, Dorota, primary, Aksentijevich, Ivona, primary, Arostegui, Juan, primary, Ben-Chétrit, Eldad, primary, Boursier, Guilaine, primary, Gattorno, Marco, primary, Hayrapetyan, Hasmik, primary, Ida, Hiroaki, primary, Kanazawa, Nobuo, primary, Lachmann, Helen J, primary, Mensa-Vilaro, Anna, primary, Nishikomori, Ryuta, primary, Oberkanins, Christian, primary, Obici, Laura, primary, Ohara, Osamu, primary, Ozen, Seza, primary, Sarkisian, Tamara, primary, Sheils, Katie, primary, Wolstenholme, Nicola, primary, Zonneveld-Huijssoon, Evelien, primary, van Gijn, Marielle E, primary, and Touitou, Isabelle, primary

Published
2020
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21. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Author

Lezzerini, Marco, primary, Penzo, Marianna, additional, O’Donohue, Marie-Françoise, additional, Marques dos Santos Vieira, Carolina, additional, Saby, Manon, additional, Elfrink, Hyung L, additional, Diets, Illja J, additional, Hesse, Anne-Marie, additional, Couté, Yohann, additional, Gastou, Marc, additional, Nin-Velez, Alexandra, additional, Nikkels, Peter G J, additional, Olson, Alexandra N, additional, Zonneveld-Huijssoon, Evelien, additional, Jongmans, Marjolijn C J, additional, Zhang, GuangJun, additional, van Weeghel, Michel, additional, Houtkooper, Riekelt H, additional, Wlodarski, Marcin W, additional, Kuiper, Roland P, additional, Bierings, Marc B, additional, van der Werff ten Bosch, Jutte, additional, Leblanc, Thierry, additional, Montanaro, Lorenzo, additional, Dinman, Jonathan D, additional, Da Costa, Lydie, additional, Gleizes, Pierre-Emmanuel, additional, and MacInnes, Alyson W, additional

Published
2019
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22. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Author

Konrad, Enrico D.H., primary, Nardini, Niels, additional, Caliebe, Almuth, additional, Nagel, Inga, additional, Young, Dana, additional, Horvath, Gabriella, additional, Santoro, Stephanie L., additional, Shuss, Christine, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Kempers, Marlies, additional, Pfundt, Rolph, additional, Legius, Eric, additional, Bouman, Arjan, additional, Stuurman, Kyra E., additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Wojcik, Monica H., additional, Vasileiou, Georgia, additional, Le Guyader, Gwenaël, additional, Schnelle, Hege M., additional, Berland, Siren, additional, Zonneveld-Huijssoon, Evelien, additional, Kersten, Simone, additional, Gupta, Aditi, additional, Blackburn, Patrick R., additional, Ellingson, Marissa S., additional, Ferber, Matthew J., additional, Dhamija, Radhika, additional, Klee, Eric W., additional, McEntagart, Meriel, additional, Lichtenbelt, Klaske D., additional, Kenney, Amy, additional, Vergano, Samantha A., additional, Abou Jamra, Rami, additional, Platzer, Konrad, additional, Ella Pierpont, Mary, additional, Khattar, Divya, additional, Hopkin, Robert J., additional, Martin, Richard J., additional, Jongmans, Marjolijn C.J., additional, Chang, Vivian Y., additional, Martinez-Agosto, Julian A., additional, Kuismin, Outi, additional, Kurki, Mitja I., additional, Pietiläinen, Olli, additional, Palotie, Aarno, additional, Maarup, Timothy J., additional, Johnson, Diana S., additional, Venborg Pedersen, Katja, additional, Laulund, Lone W., additional, Lynch, Sally A., additional, Blyth, Moira, additional, Prescott, Katrina, additional, Canham, Natalie, additional, Ibitoye, Rita, additional, Brilstra, Eva H., additional, Shinawi, Marwan, additional, Fassi, Emily, additional, Sticht, Heinrich, additional, Gregor, Anne, additional, Van Esch, Hilde, additional, and Zweier, Christiane, additional

Published
2019
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23. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Author

Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., and Kuijpers, Taco W.

Subjects
NUCLEOTIDE sequencing, CHILD patients, COHORT analysis, IMMUNOLOGIC diseases, GENETIC testing, GENETIC disorder diagnosis, MOLECULAR diagnosis
Abstract

Objective: Inborn errors of immunity (IEI) are a heterogeneous group of disorders, affecting different components of the immune system. Over 450 IEI related genes have been identified, with new genes continually being recognized. This makes the early application of next-generation sequencing (NGS) as a diagnostic method in the evaluation of IEI a promising development. We aimed to provide an overview of the diagnostic yield and time to diagnosis in a cohort of patients suspected of IEI and evaluated by an NGS based IEI panel early in the diagnostic trajectory in a multicenter setting in the Netherlands. Study Design: We performed a prospective observational cohort study. We collected data of 165 patients with a clinical suspicion of IEI without prior NGS based panel evaluation that were referred for early NGS using a uniform IEI gene panel. The diagnostic yield was assessed in terms of definitive genetic diagnoses, inconclusive diagnoses and patients without abnormalities in the IEI gene panel. We also assessed time to diagnosis and clinical implications. Results: For children, the median time from first consultation to diagnosis was 119 days versus 124 days for adult patients (U=2323; p=0.644). The median turn-around time (TAT) of genetic testing was 56 days in pediatric patients and 60 days in adult patients (U=1892; p=0.191). A definitive molecular diagnosis was made in 25/65 (24.6%) of pediatric patients and 9/100 (9%) of adults. Most diagnosed disorders were identified in the categories of immune dysregulation (n=10/25; 40%), antibody deficiencies (n=5/25; 20%), and phagocyte diseases (n=5/25; 20%). Inconclusive outcomes were found in 76/165 (46.1%) patients. Within the patient group with a genetic diagnosis, a change in disease management occurred in 76% of patients. Conclusion: In this cohort, the highest yields of NGS based evaluation for IEI early in the diagnostic trajectory were found in pediatric patients, and in the disease categories immune dysregulation and phagocyte diseases. In cases where a definitive diagnosis was made, this led to important disease management implications in a large majority of patients. More research is needed to establish a uniform diagnostic pathway for cases with inconclusive diagnoses, including variants of unknown significance. [ABSTRACT FROM AUTHOR]

Published
2021
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24. Additional file 7: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, Mofareh AlZahrani, Elanur Yilmaz, AlIdrissi, Eman, Aerde, Koen, Njood Alenezi, AlGhamdi, Hamza, Hadeel AlJubab, Abdulrahman Al-Hussaini, AlManjomi, Fahad, Alsaad, Alaa, Alsaleem, Badr, Abdulrahman Andijani, Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal, Deuren, Marcel, Flier, Michiel, Gerkes, Erica, Gilissen, Christian, Habazi, Murad, Hehir-Kwa, Jayne, Henriet, Stefanie, Hoppenreijs, Esther, Hortillosa, Sarah, Kerkhofs, Chantal, Keski-Filppula, Riikka, Lelieveld, Stefan, Lone, Khurram, MacKenzie, Marius, Mensenkamp, Arjen, Moilanen, Jukka, Nelen, Marcel, Oever, Jaap, Potjewijd, Judith, Paassen, Pieter, Schuurs-Hoeijmakers, Janneke, Simon, Anna, Stokowy, Tomasz, Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, Well, Gijs, Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris, Zelst-Stams, Wendy, Faqeih, Eissa, Veerdonk, Frank, Netea, Mihai, and Hoischen, Alexander

Subjects
3. Good health
Abstract

Additional material and references. (DOCX 31 kb)

Published
2019
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26. Safety and Efficacy of Meningococcal C Vaccination in Juvenile Idiopathic Arthritis

Author

Zonneveld-Huijssoon, Evelien, Ronaghy, Arash, Van Rossum, Marion A. J., Rijkers, Ger T., Van Der Klis, Fiona R. M., Sanders, Elisabeth A. M., Vermeer-De Bondt, Patricia E., Hoes, Arno W., Van Der Net, Jan Jaap, Engels, Carla, Kuis, Wietse, Prakken, Berent J., Van Tol, Maarten J. D., and Wulffraat, Nico M.

Published
2007

27. Cohesin complex-associated holoprosencephaly

Author

Kruszka, Paul, primary, Berger, Seth I, primary, Casa, Valentina, primary, Dekker, Mike R, primary, Gaesser, Jenna, primary, Weiss, Karin, primary, Martinez, Ariel F, primary, Murdock, David R, primary, Louie, Raymond J, primary, Prijoles, Eloise J, primary, Lichty, Angie W, primary, Brouwer, Oebele F, primary, Zonneveld-Huijssoon, Evelien, primary, Stephan, Mark J, primary, Hogue, Jacob, primary, Hu, Ping, primary, Tanima-Nagai, Momoko, primary, Everson, Joshua L, primary, Prasad, Chitra, primary, Cereda, Anna, primary, Iascone, Maria, primary, Schreiber, Allison, primary, Zurcher, Vickie, primary, Corsten-Janssen, Nicole, primary, Escobar, Luis, primary, Clegg, Nancy J, primary, Delgado, Mauricio R, primary, Hajirnis, Omkar, primary, Balasubramanian, Meena, primary, Kayserili, Hülya, primary, Deardorff, Matthew, primary, Poot, Raymond A, primary, Wendt, Kerstin S, primary, Lipinski, Robert J, primary, and Muenke, Maximilian, primary

Published
2019
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28. Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Author

Deelen, Patrick, primary, van Dam, Sipko, additional, Herkert, Johanna C., additional, Karjalainen, Juha M., additional, Brugge, Harm, additional, Abbott, Kristin M., additional, van Diemen, Cleo C., additional, van der Zwaag, Paul A., additional, Gerkes, Erica H., additional, Zonneveld-Huijssoon, Evelien, additional, Boer-Bergsma, Jelkje J., additional, Folkertsma, Pytrik, additional, Gillett, Tessa, additional, van der Velde, K. Joeri, additional, Kanninga, Roan, additional, van den Akker, Peter C., additional, Jan, Sabrina Z., additional, Hoorntje, Edgar T., additional, te Rijdt, Wouter P., additional, Vos, Yvonne J., additional, Jongbloed, Jan D. H., additional, van Ravenswaaij-Arts, Conny M. A., additional, Sinke, Richard, additional, Sikkema-Raddatz, Birgit, additional, Kerstjens-Frederikse, Wilhelmina S., additional, Swertz, Morris A., additional, and Franke, Lude, additional

Published
2019
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29. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Author

Lezzerini, Marco, Penzo, Marianna, O'Donohue, Marie-Françoise, Marques dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, and Kuiper, Roland P

Published
2020
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31. Autologous stem cell transplantation restores immune tolerance in experimental arthritis by renewal and modulation of the T effector compartment

Author

Delemarre, Eveline M., Roord, Sarah T. A., van den Broek, Theo, Zonneveld-Huijssoon, Evelien, de Jager, Wilco, Rozemuller, Henk, Martens, Anton, Broere, Femke, Wulffraat, Nico M., Glant, Tibor T., Prakken, Berent J., and van Wijk, Femke

Subjects
Mice, Inbred BALB C, Tumor Necrosis Factor-alpha, T-Lymphocytes, Interleukin-17, Arthritis, Experimental, T-Lymphocytes, Regulatory, Article, Disease Models, Animal, Interferon-gamma, Mice, T-Lymphocyte Subsets, Immune Tolerance, Animals, Female, Proteoglycans, Autografts, Bone Marrow Transplantation, Stem Cell Transplantation
Abstract

Autologous stem cell transplantation (ASCT) induces long-term drug-free disease remission in patients with juvenile idiopathic arthritis. This study was undertaken to further unravel the immunologic mechanisms underlying ASCT by using a mouse model of proteoglycan-induced arthritis (PGIA).For initiation of PGIA, BALB/c mice received 2 intraperitoneal injections of human PG in a synthetic adjuvant on days 0 and 21. Five weeks after the first immunization, the mice were exposed to total body irradiation (7.5 Gy) and received (un)manipulated bone marrow (BM) grafts from mice with PGIA. Clinical scores, T cell reconstitution, (antigen-specific) T cell cytokine production, and intracellular cytokine expression were determined following autologous BM transplantation (ABMT).ABMT resulted in amelioration and stabilization of arthritis scores. BM grafts containing T cells and T cell-depleted grafts provided the same clinical benefit, with similar reductions in PG-induced T cell proliferation and the number of PG-specific autoantibodies. In vivo reexposure to PG did not exacerbate disease. Following ABMT, basal levels of disease-associated proinflammatory cytokines (interferon-γ [IFNγ], interleukin-17 [IL-17], and tumor necrosis factor α [TNFα]) were reduced. In addition, restimulation of T cells with PG induced a strong reduction in disease-associated proinflammatory cytokine production. Finally, although the remaining host T cells displayed a proinflammatory phenotype following ABMT, IFNγ, IL-17, and TNFα production by the newly reconstituted donor-derived T cells was significantly lower.Taken together, our data suggest that ABMT restores immune tolerance by renewal and modulation of the Teff cell compartment, leading to a strong reduction in proinflammatory (self antigen-specific) T cell cytokine production.

Published
2014

33. Modulation of T Cell Function by Combination of Epitope Specific and Low Dose Anticytokine Therapy Controls Autoimmune Arthritis

Author

Roord, Sarah T.A., primary, Zonneveld-Huijssoon, Evelien, additional, Le, Tho, additional, Yung, Gisella Puga, additional, Koffeman, Eva, additional, Ronaghy, Arash, additional, Ghahramani, Negar, additional, Lanza, Paola, additional, Billetta, Rosario, additional, Prakken, Berent J., additional, and Albani, Salvatore, additional

Published
2006
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35. Additional file 7: of Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Author

Arts, Peer, Simons, Annet, Mofareh AlZahrani, Elanur Yilmaz, AlIdrissi, Eman, Aerde, Koen, Njood Alenezi, AlGhamdi, Hamza, Hadeel AlJubab, Abdulrahman Al-Hussaini, AlManjomi, Fahad, Alsaad, Alaa, Alsaleem, Badr, Abdulrahman Andijani, Asery, Ali, Ballourah, Walid, Bleeker-Rovers, Chantal, Deuren, Marcel, Flier, Michiel, Gerkes, Erica, Gilissen, Christian, Habazi, Murad, Hehir-Kwa, Jayne, Henriet, Stefanie, Hoppenreijs, Esther, Hortillosa, Sarah, Kerkhofs, Chantal, Keski-Filppula, Riikka, Lelieveld, Stefan, Lone, Khurram, MacKenzie, Marius, Mensenkamp, Arjen, Moilanen, Jukka, Nelen, Marcel, Oever, Jaap, Potjewijd, Judith, Paassen, Pieter, Schuurs-Hoeijmakers, Janneke, Simon, Anna, Stokowy, Tomasz, Vorst, Maartje, Vreeburg, Maaike, Wagner, Anja, Well, Gijs, Zafeiropoulou, Dimitra, Zonneveld-Huijssoon, Evelien, Veltman, Joris, Zelst-Stams, Wendy, Faqeih, Eissa, Veerdonk, Frank, Netea, Mihai, and Hoischen, Alexander

Subjects
3. Good health
Abstract

Additional material and references. (DOCX 31 kb)

36. Cohesin complex-associated holoprosencephaly

Author

Seth I. Berger, Maximilian Muenke, Omkar Hajirnis, Paul Kruszka, David R. Murdock, Raymond J. Louie, Joshua L. Everson, Luis F. Escobar, Chitra Prasad, Maria Iascone, Hülya Kayserili, Raymond A. Poot, Valentina Casa, Nancy J. Clegg, Evelien Zonneveld-Huijssoon, Anna Cereda, Jenna Gaesser, Meena Balasubramanian, Nicole Corsten-Janssen, Mike R. Dekker, Jacob Hogue, Mark J. Stephan, Mauricio R. Delgado, Ariel F. Martinez, Oebele F. Brouwer, Allison Schreiber, Ping Hu, Angie W Lichty, Vickie Zurcher, Kerstin S. Wendt, Karin Weiss, Eloise J. Prijoles, Robert J. Lipinski, Momoko Tanima-Nagai, Matthew A. Deardorff, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Kruszka, Paul, Berger, Seth I., Casa, Valentina, Dekker, Mike R., Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F., Murdock, David R., Louie, Raymond J., Prijoles, Eloise J., Lichty, Angie W., Brouwer, Oebele F., Zonneveld-Huijssoon, Evelien, Stephan, Mark J., Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L., Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J., Delgado, Mauricio R., Hajirnis, Omkar, Balasubramanian, Meena, Deardorff, Matthew, Poot, Raymond A., Wendt, Kerstin S., Lipinski, Robert J., Muenke, Maximilian, School of Medicine, Department of Medical Genetics, and Cell biology

Subjects
0301 basic medicine, Male, Chromosomal Proteins, Non-Histone, VARIANT, Cohesin complex, Forebrain division, Holoprosencephaly, X-linked inheritance, Cell Cycle Proteins, 030105 genetics & heredity, SMC1A CAUSE, Mice, SONIC-HEDGEHOG, OF-FUNCTION MUTATIONS, Sonic hedgehog, Child, EPILEPSY, Genetics, forebrain division, DEVELOPMENTAL DELAY, Forebrain morphogenesis, DE-LANGE-SYNDROME, Child, Preschool, CORNELIA, Medicine, Female, Adolescent, Biology, ZIC2, 03 medical and health sciences, GLI2, medicine, Animals, Humans, Letters to the Editor, Neural fold, cohesin complex, Infant, Newborn, Infant, Original Articles, medicine.disease, Mice, Inbred C57BL, INDIVIDUALS, 030104 developmental biology, holoprosencephaly, Forebrain, biology.protein, Neurology (clinical), RAD21 MUTATIONS
Abstract

Marked by incomplete division of the embryonic forebrain, holoprosencephaly is one of the most common human developmental disorders. Despite decades of phenotype-driven research, 80-90% of aneuploidy-negative holoprosencephaly individuals with a probable genetic aetiology do not have a genetic diagnosis. Here we report holoprosencephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and SMC1A, with loss-of-function variants in 10 individuals and a missense variant in one. Additionally, we report four individuals with variants in the cohesin complex genes that are not X-linked, SMC3 and RAD21. Using whole mount in situ hybridization, we show that STAG2 and SMC1A are expressed in the prosencephalic neural folds during primary neurulation in the mouse, consistent with forebrain morphogenesis and holoprosencephaly pathogenesis. Finally, we found that shRNA knockdown of STAG2 and SMC1A causes aberrant expression of HPE-associated genes ZIC2, GLI2, SMAD3 and FGFR1 in human neural stem cells. These findings show the cohesin complex as an important regulator of median forebrain development and X-linked inheritance patterns in holoprosencephaly., National Human Genome Research Institute Intramural Research Program; Dutch Cancer Society (KWF); Netherlands Organisation of Scientific Research (NWO); National Institute of Environmental Health Sciences of the National Institutes of Health

Published
2019

37. Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Author

Marianna Penzo, Riekelt H. Houtkooper, Marjolijn C.J. Jongmans, Alexandra Nin-Velez, Carolina Marques dos Santos Vieira, Evelien Zonneveld-Huijssoon, Alexandra N. Olson, Roland P. Kuiper, Anne-Marie Hesse, Marie-Françoise O'Donohue, Marc Bierings, Hyung L. Elfrink, Michel van Weeghel, Marco Lezzerini, Manon Saby, Peter G. J. Nikkels, Alyson W. MacInnes, Lydie Da Costa, Illja J. Diets, Pierre-Emmanuel Gleizes, Jonathan D. Dinman, Marc Gastou, Lorenzo Montanaro, Yohann Couté, Thierry Leblanc, GuangJun Zhang, Marcin W. Wlodarski, Jutte van der Werff ten Bosch, Lezzerini, Marco, Penzo, Marianna, O'Donohue, Marie-Françoise, Marques Dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff Ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W, Etude de la dynamique des protéomes (EDyP ), Laboratoire de Biologie à Grande Échelle (BGE - UMR S1038), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), The Beatson Institute for Cancer Research, University of Glasgow, Human Genetics, Radboud University Medical Center [Nijmegen], Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Laboratoire de biologie moléculaire eucaryote (LBME), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), ANR-15-CE12-0001,DBA-MULTIGENES,DBA-MULTIGENES: identification et caractérisation de gènes candidats pour la découverte de nouveaux mécanismes physiopathologiques à l'origine de l'anémie de Blackfan-Diamond.(2015), Laboratory Genetic Metabolic Diseases, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, APH - Aging & Later Life, ACS - Diabetes & metabolism, ACS - Heart failure & arrhythmias, Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre de Biologie Intégrative (CBI), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Clinical sciences, Growth and Development, and Pediatrics

Subjects
Male, INTELLECTUAL DISABILITY, Ribosomopathy, [SDV]Life Sciences [q-bio], Ribosome biogenesis, medicine.disease_cause, Ribosome, PATHWAY, 0302 clinical medicine, RPL9, diamond blackfan anemia, DBA, ribosomes, ribosomopathy, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], RNA Precursors, Missense mutation, FAILURE, ASSAY, Variants in ribosomal protein, RNA Processing, Post-Transcriptional, Child, Cancer, Anemia, Diamond-Blackfan, Medicine(all), Genetics, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, 0303 health sciences, Mutation, ABNORMALITIES, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, 3. Good health, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, Female, Eukaryotic Ribosome, Adult, Ribosomal Proteins, Adolescent, DATABASE, DIAMOND-BLACKFAN ANEMIA, Biology, bone marrow failure syndrome, 03 medical and health sciences, Erythroid Cells, Ribosomal protein, Exome Sequencing, medicine, Humans, RNA, Messenger, Gene, Molecular Biology, 030304 developmental biology, PREDISPOSITION, MODEL, Genes, Cellular Metabolism, 5' Untranslated Regions, Ribosomes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

Contains fulltext : 218593.pdf (Publisher’s version ) (Open Access) Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer. Inherited and sporadic RP gene variants are also linked to a variety of phenotypes, including malignancy, in individuals with no anemia. Here we report an individual diagnosed with DBA carrying a variant in the 5'UTR of RPL9 (uL6). Additionally, we report two individuals from a family with multiple cancer incidences carrying a RPL9 missense variant. Analysis of cells from these individuals reveals that despite the variants both driving pre-rRNA processing defects and 80S monosome reduction, the downstream effects are remarkably different. Cells carrying the 5'UTR variant stabilize TP53 and impair the growth and differentiation of erythroid cells. In contrast, ribosomes incorporating the missense variant erroneously read through UAG and UGA stop codons of mRNAs. Metabolic profiles of cells carrying the 5'UTR variant reveal an increased metabolism of amino acids and a switch from glycolysis to gluconeogenesis while those of cells carrying the missense variant reveal a depletion of nucleotide pools. These findings indicate that variants in the same RP gene can drive similar ribosome biogenesis defects yet still have markedly different downstream consequences and clinical impacts.

Published
2020

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