Search

Your search keyword '"Kayserili, Hülya"' showing total 646 results
Start Over Author "Kayserili, Hülya"
646 results on '"Kayserili, Hülya"'

151. A deleterious recessive mutation in NUAK2 causes absence of brain in humans

Author

Ghosh, Kakaly, primary, Navaratnam, Naveenan, additional, Chan, Puck Wee, additional, Tan, Thong Teck, additional, Ng, Alvin Yu Jin, additional, Tohari, Sumanty, additional, Pomp, Oz, additional, Venkatesh, Byrappa, additional, Altunoglu, Umut, additional, Kayserili, Hülya, additional, Bonnard, Carine, additional, and Reversade, Bruno, additional

Published
2017
Full Text
View/download PDF

152. PYCR2 Protects from Neurodegeneration by Controlling Oligodendrocyte Maturation and Glycinemia through SHMT2

Author

Escande-Beillard, Nathalie, primary, Kanata, Kohei, additional, Loh, Abigail, additional, Altunoglu, Umut, additional, Pomp, Oz, additional, Metoska, Artina, additional, Grandjean, Joanes, additional, Sotiroupoulou, Kortessa, additional, Ng, Fui Mee, additional, Wong, Joyner, additional, Jansson, Anna Elisabet, additional, Hill, Jeffrey, additional, Cozzone, Patrick, additional, Kayserili, Hülya, additional, Hiroshi, Hamada, additional, Shiratori, Hidetaka, additional, and Reversade, Bruno, additional

Published
2017
Full Text
View/download PDF

153. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Author

Acuna-Hidalgo, Rocio, primary, Deriziotis, Pelagia, additional, Steehouwer, Marloes, additional, Gilissen, Christian, additional, Graham, Sarah A., additional, van Dam, Sipko, additional, Hoover-Fong, Julie, additional, Telegrafi, Aida B., additional, Destree, Anne, additional, Smigiel, Robert, additional, Lambie, Lindsday A., additional, Kayserili, Hülya, additional, Altunoglu, Umut, additional, Lapi, Elisabetta, additional, Uzielli, Maria Luisa, additional, Aracena, Mariana, additional, Nur, Banu G., additional, Mihci, Ercan, additional, Moreira, Lilia M. A., additional, Borges Ferreira, Viviane, additional, Horovitz, Dafne D. G., additional, da Rocha, Katia M., additional, Jezela-Stanek, Aleksandra, additional, Brooks, Alice S., additional, Reutter, Heiko, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Smitka, Martin, additional, Grebe, Theresa A., additional, Di Donato, Nataliya, additional, Deshpande, Charu, additional, Vandersteen, Anthony, additional, Marques Lourenço, Charles, additional, Dufke, Andreas, additional, Rossier, Eva, additional, Andre, Gwenaelle, additional, Baumer, Alessandra, additional, Spencer, Careni, additional, McGaughran, Julie, additional, Franke, Lude, additional, Veltman, Joris A., additional, De Vries, Bert B. A., additional, Schinzel, Albert, additional, Fisher, Simon E., additional, Hoischen, Alexander, additional, and van Bon, Bregje W., additional

Published
2017
Full Text
View/download PDF

154. Teratogenicity of Antiepileptic Drugs

Author

Güveli, Betül Tekin, primary, Rosti, Rasim Özgür, additional, Güzeltaş, Alper, additional, Tuna, Elif Bahar, additional, Ataklı, Dilek, additional, Sencer, Serra, additional, Yekeler, Ensar, additional, Kayserili, Hülya, additional, Dirican, Ahmet, additional, Bebek, Nerses, additional, Baykan, Betül, additional, Gökyiğit, Ayşen, additional, and Gürses, Candan, additional

Published
2017
Full Text
View/download PDF

155. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.

Author

Palencia‐Campos, Adrián, Martínez‐Fernández, María‐Luisa, Altunoglu, Umut, Soto‐Bielicka, Patricia, Torres, Antonio, Marín, Purificación, Aller, Elena, Şentürk, Leyli, Berköz, Ömer, Yıldıran, Mehmet, Kayserili, Hülya, Gil‐Camarero, Elena, Colli‐Lista, Gloria, Sanchís‐Calvo, Amparo, Carretero, Alba, Guillén‐Navarro, Encarna, López‐González, Vanesa, Ballesta‐Martínez, María, Rosell, Jordi, and Aglan, Mona S.

Abstract

Postaxial polydactyly (PAP) is a frequent limb malformation consisting in the duplication of the fifth digit of the hand or foot. Morphologically, this condition is divided into type A and B, with PAP‐B corresponding to a more rudimentary extra‐digit. Recently, biallelic truncating variants in the transcription factor GLI1 were reported to be associated with a recessive disorder, which in addition to PAP‐A, may include syndromic features. Moreover, two heterozygous subjects carrying only one inactive copy of GLI1 were also identified with PAP. Herein, we aimed to determine the level of involvement of GLI1 in isolated PAP, a condition previously established to be autosomal dominantly inherited with incomplete penetrance. We analyzed the coding region of GLI1 in 95 independent probands with nonsyndromic PAP and found 11.57% of these subjects with single heterozygous pathogenic variants in this gene. The detected variants lead to premature termination codons or result in amino acid changes in the DNA‐binding domain of GLI1 that diminish its transactivation activity. Family segregation analysis of these variants was consistent with dominant inheritance with incomplete penetrance. We conclude that heterozygous changes in GLI1 underlie a significant proportion of sporadic or familial cases of isolated PAP‐A/B. [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

157. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

Author

Regenerative Medicine, Stem Cells & Cancer, Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur'Ain B, Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S Zakiah A, van Hul, Noémi, Caldez, Matias J, Van Maldergem, Lionel, Yigit, Gökhan, Kayserili, Hülya, Youssef, Sameh A, Coppola, Vincenzo, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon, Rupp, Verena, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmüller, Janine, Roy, Sudipto, Venkatesh, Byrappa, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut, Al Kaissi, Ali, Reversade, Bruno, Kaldis, Philipp, Regenerative Medicine, Stem Cells & Cancer, Windpassinger, Christian, Piard, Juliette, Bonnard, Carine, Alfadhel, Majid, Lim, Shuhui, Bisteau, Xavier, Blouin, Stéphane, Ali, Nur'Ain B, Ng, Alvin Yu Jin, Lu, Hao, Tohari, Sumanty, Talib, S Zakiah A, van Hul, Noémi, Caldez, Matias J, Van Maldergem, Lionel, Yigit, Gökhan, Kayserili, Hülya, Youssef, Sameh A, Coppola, Vincenzo, de Bruin, Alain, Tessarollo, Lino, Choi, Hyungwon, Rupp, Verena, Roetzer, Katharina, Roschger, Paul, Klaushofer, Klaus, Altmüller, Janine, Roy, Sudipto, Venkatesh, Byrappa, Ganger, Rudolf, Grill, Franz, Ben Chehida, Farid, Wollnik, Bernd, Altunoglu, Umut, Al Kaissi, Ali, Reversade, Bruno, and Kaldis, Philipp

Published
2017

158. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

Author

Ministerio de Economía y Competitividad (España), Ministero della Salute, Higher Education Commission (Pakistan), Palencia-Campos, Adrián, Ullah, Asmat, Nevado, Julian, Yildirim, Ruken, Unal, Edip, Ciorraga, Maria, Barruz, Pilar, Chico, Lucia, Piceci-Sparascio, Francesca, Guida, Valentina, De Luca, Alessandro, Kayserili, Hülya, Ullah, Irfan, Morales, Aixa V., Ruiz-Pérez, Victor L., Ministerio de Economía y Competitividad (España), Ministero della Salute, Higher Education Commission (Pakistan), Palencia-Campos, Adrián, Ullah, Asmat, Nevado, Julian, Yildirim, Ruken, Unal, Edip, Ciorraga, Maria, Barruz, Pilar, Chico, Lucia, Piceci-Sparascio, Francesca, Guida, Valentina, De Luca, Alessandro, Kayserili, Hülya, Ullah, Irfan, Morales, Aixa V., and Ruiz-Pérez, Victor L.

Abstract

GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. We describe eight patients from three independent families having biallelic truncating variants in GLI1 and developmental defects overlapping with Ellis-van Creveld syndrome (EvC), a disease caused by diminished Hh signaling. Two families had mutations in the last exon of the gene and a third family was identified with an N-terminal stop gain variant predicted to be degraded by the NMD-pathway. Analysis of fibroblasts from one of the patients with homozygous C-terminal truncation of GLI1 demonstrated that the corresponding mutant GLI1 protein is fabricated by patient cells and becomes upregulated in response to Hh signaling. However, the transcriptional activity of the truncated GLI1 factor was found to be severely impaired by cell culture and in vivo assays, indicating that the balance between GLI repressors and activators is altered in affected subjects. Consistent with this, reduced expression of the GLI target PTCH1 was observed in patient fibroblasts after chemical induction of the Hh pathway. We conclude that GLI1 inactivation is associated with a phenotypic spectrum extending from isolated postaxial polydactyly to an EvC-like condition.

Published
2017

159. A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Author

Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Małgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Özkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, Wollnik, Bernd, Wieczorek, Dagmar, Bögershausen, Nina, Beleggia, Filippo, Steiner-Haldenstätt, Sabine, Pohl, Esther, Li, Yun, Milz, Esther, Martin, Marcel, Thiele, Holger, Altmüller, Janine, Alanay, Yasemin, Kayserili, Hülya, Klein-Hitpass, Ludger, Böhringer, Stefan, Wollstein, Andreas, Albrecht, Beate, Boduroglu, Koray, Caliebe, Almuth, Chrzanowska, Krystyna, Cogulu, Ozgur, Cristofoli, Francesca, Czeschik, Johanna Christina, Devriendt, Koenraad, Dotti, Maria Teresa, Elcioglu, Nursel, Gener, Blanca, Goecke, Timm O., Krajewska-Walasek, Małgorzata, Guillén-Navarro, Encarnación, Hayek, Joussef, Houge, Gunnar, Kilic, Esra, Simsek-Kiper, Pelin Özlem, López-González, Vanesa, Kuechler, Alma, Lyonnet, Stanislas, Mari, Francesca, Marozza, Annabella, Mathieu Dramard, Michèle, Mikat, Barbara, Morin, Gilles, Morice-Picard, Fanny, Özkinay, Ferda, Rauch, Anita, Renieri, Alessandra, Tinschert, Sigrid, Utine, G. Eda, Vilain, Catheline, Vivarelli, Rossella, Zweier, Christiane, Nürnberg, Peter, Rahmann, Sven, Vermeesch, Joris, Lüdecke, Hermann-Josef, Zeschnigk, Michael, and Wollnik, Bernd

Abstract

Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. De novo dominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G>T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation (NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies

Published
2017

160. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Author

Acuna-Hidalgo, Rocio; https://orcid.org/0000-0001-9413-0348, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko; https://orcid.org/0000-0001-9204-0197, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, et al, Acuna-Hidalgo, Rocio; https://orcid.org/0000-0001-9413-0348, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah A, van Dam, Sipko; https://orcid.org/0000-0001-9204-0197, Hoover-Fong, Julie, Telegrafi, Aida B, Destree, Anne, Smigiel, Robert, Lambie, Lindsday A, Kayserili, Hülya, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G, Mihci, Ercan, Moreira, Lilia M A, Borges Ferreira, Viviane, Horovitz, Dafne D G, da Rocha, Katia M, Jezela-Stanek, Aleksandra, Brooks, Alice S, Reutter, Heiko, Cohen, Julie S, Fatemi, Ali, Smitka, Martin, Grebe, Theresa A, Di Donato, Nataliya, and et al

Abstract

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype.

Published
2017

161. Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Author

Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, and Zenker, Martin

Published
2014
Full Text
View/download PDF

162. Mutations In Cdk5Rap2 Cause Seckel Syndrome

Author

Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd, University of Zurich, and Wollnik, Bernd

Subjects
2716 Genetics (clinical), 1311 Genetics, 10039 Institute of Medical Genetics, 1312 Molecular Biology, 570 Life sciences, biology, 610 Medicine & health
Abstract

Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c. 383+ 1G>C and c. 4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein which is known to be essential for centrosomal cohesion and proper spindle formation and has been shown to be causally involved in autosomal recessive primary microcephaly. We establish CDK5RAP2 as a disease-causing gene for Seckel syndrome and show that loss of functional CDK5RAP2 leads to severe defects in mitosis and spindle organization, resulting in cells with abnormal nuclei and centrosomal pattern, which underlines the important role of centrosomal and mitotic proteins in the pathogenesis of the disease. Additionally, we present an intriguing case of possible digenic inheritance in Seckel syndrome: A severely affected child of nonconsanguineous German parents was found to carry heterozygous mutations in CDK5RAP2 and CEP152. This finding points toward a potential additive genetic effect of mutations in CDK5RAP2 and CEP152.

Published
2015

163. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Author

Gordon, Christopher T, primary, Xue, Shifeng, additional, Yigit, Gökhan, additional, Filali, Hicham, additional, Chen, Kelan, additional, Rosin, Nadine, additional, Yoshiura, Koh-ichiro, additional, Oufadem, Myriam, additional, Beck, Tamara J, additional, McGowan, Ruth, additional, Magee, Alex C, additional, Altmüller, Janine, additional, Dion, Camille, additional, Thiele, Holger, additional, Gurzau, Alexandra D, additional, Nürnberg, Peter, additional, Meschede, Dieter, additional, Mühlbauer, Wolfgang, additional, Okamoto, Nobuhiko, additional, Varghese, Vinod, additional, Irving, Rachel, additional, Sigaudy, Sabine, additional, Williams, Denise, additional, Ahmed, S Faisal, additional, Bonnard, Carine, additional, Kong, Mung Kei, additional, Ratbi, Ilham, additional, Fejjal, Nawfal, additional, Fikri, Meriem, additional, Elalaoui, Siham Chafai, additional, Reigstad, Hallvard, additional, Bole-Feysot, Christine, additional, Nitschké, Patrick, additional, Ragge, Nicola, additional, Lévy, Nicolas, additional, Tunçbilek, Gökhan, additional, Teo, Audrey S M, additional, Cunningham, Michael L, additional, Sefiani, Abdelaziz, additional, Kayserili, Hülya, additional, Murphy, James M, additional, Chatdokmaiprai, Chalermpong, additional, Hillmer, Axel M, additional, Wattanasirichaigoon, Duangrurdee, additional, Lyonnet, Stanislas, additional, Magdinier, Frédérique, additional, Javed, Asif, additional, Blewitt, Marnie E, additional, Amiel, Jeanne, additional, Wollnik, Bernd, additional, and Reversade, Bruno, additional

Published
2017
Full Text
View/download PDF

164. Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Author

Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hülya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie, and Hildebrandt, Friedhelm

Published
2013
Full Text
View/download PDF

165. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Author

Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-Gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria, Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-Gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, and Valente, Enza Maria

Abstract

BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to be determined. The aim of this study is to describe the mutational frequency and phenotypic spectrum of the CEP120 gene. METHODS: Exome sequencing was performed in 145 patients with Joubert syndrome (JS), including 15 children with oral-facial-digital syndrome type VI (OFDVI) and 21 Meckel syndrome (MKS) fetuses. Moreover, exome sequencing was performed in one fetus with tectocerebellar dysraphia with occipital encephalocele (TCDOE), molar tooth sign and additional skeletal abnormalities. As a parallel study, 346 probands with a phenotype consistent with JS or related ciliopathies underwent next-generation sequencing-based targeted sequencing of 120 previously described and candidate ciliopathy genes. RESULTS: We present six probands carrying nine distinct mutations (of which eight are novel) in the CEP120 gene, previously found mutated only in Jeune asphyxiating thoracic dystrophy (JATD). The CEP120-associated phenotype ranges from mild classical JS in four patients to more severe conditions in two fetuses, with overlapping features of distinct ciliopathies that include TCDOE, MKS, JATD and OFD syndromes. No obvious correlation is evident between the type or location of identified mutations and the ciliopathy phenotype. CONCLUSION: Our findings broaden the spectrum of phenotypes caused by CEP120 mutations that account for nearly 1% of patients with JS as well as for more complex ciliopathy phenotypes. The lack of clear genotype-phenotype correlation highlights the relevance of comprehensive genetic analyses in the diagnostics of ciliopathies.

Published
2016

168. Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Author

Bögershausen, Nina, primary, Gatinois, Vincent, additional, Riehmer, Vera, additional, Kayserili, Hülya, additional, Becker, Jutta, additional, Thoenes, Michaela, additional, Simsek-Kiper, Pelin Özlem, additional, Barat-Houari, Mouna, additional, Elcioglu, Nursel H., additional, Wieczorek, Dagmar, additional, Tinschert, Sigrid, additional, Sarrabay, Guillaume, additional, Strom, Tim M., additional, Fabre, Aurélie, additional, Baynam, Gareth, additional, Sanchez, Elodie, additional, Nürnberg, Gudrun, additional, Altunoglu, Umut, additional, Capri, Yline, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Corsini, Carole, additional, Cormier-Daire, Valérie, additional, Sanlaville, Damien, additional, Giuliano, Fabienne, additional, Le Quan Sang, Kim-Hanh, additional, Kayirangwa, Honorine, additional, Nürnberg, Peter, additional, Meitinger, Thomas, additional, Boduroglu, Koray, additional, Zoll, Barbara, additional, Lyonnet, Stanislas, additional, Tzschach, Andreas, additional, Verloes, Alain, additional, Di Donato, Nataliya, additional, Touitou, Isabelle, additional, Netzer, Christian, additional, Li, Yun, additional, Geneviève, David, additional, Yigit, Gökhan, additional, and Wollnik, Bernd, additional

Published
2016
Full Text
View/download PDF

169. Mutations inCEP120cause Joubert syndrome as well as complex ciliopathy phenotypes

Author

Roosing, Susanne, primary, Romani, Marta, additional, Isrie, Mala, additional, Rosti, Rasim Ozgur, additional, Micalizzi, Alessia, additional, Musaev, Damir, additional, Mazza, Tommaso, additional, Al-gazali, Lihadh, additional, Altunoglu, Umut, additional, Boltshauser, Eugen, additional, D'Arrigo, Stefano, additional, De Keersmaecker, Bart, additional, Kayserili, Hülya, additional, Brandenberger, Sarah, additional, Kraoua, Ichraf, additional, Mark, Paul R, additional, McKanna, Trudy, additional, Van Keirsbilck, Joachim, additional, Moerman, Philippe, additional, Poretti, Andrea, additional, Puri, Ratna, additional, Van Esch, Hilde, additional, Gleeson, Joseph G, additional, and Valente, Enza Maria, additional

Published
2016
Full Text
View/download PDF

170. A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

Author

Oud, Machteld M., primary, Bonnard, Carine, additional, Mans, Dorus A., additional, Altunoglu, Umut, additional, Tohari, Sumanty, additional, Ng, Alvin Yu Jin, additional, Eskin, Ascia, additional, Lee, Hane, additional, Rupar, C. Anthony, additional, de Wagenaar, Nathalie P., additional, Wu, Ka Man, additional, Lahiry, Piya, additional, Pazour, Gregory J., additional, Nelson, Stanley F., additional, Hegele, Robert A., additional, Roepman, Ronald, additional, Kayserili, Hülya, additional, Venkatesh, Byrappa, additional, Siu, Victoria M., additional, Reversade, Bruno, additional, and Arts, Heleen H., additional

Published
2016
Full Text
View/download PDF

171. Duchenne Kas Distrofisi Dmd İçin Riskli Ailelerde Taşıyıcılığın Belirlenmesi ve Prenatal Tanı: 132 Aile ve 35 Gebeliğin Sonuçları

Author

Kayserili, Hülya, Polat, Deniz, Gökgöz, Nalan, Başaran, Seher, Karaman, Birsen, Kırdar, Betül, Tolun, Aslı, Aydınlı, Kılıç, Yüksel, Ahi, Apak, Selçuk, and Apak, Memnune Yüksel

Abstract

The prenatal diagnosis of DMD a progressively debilitating lethal X linked recessive disorder is critical in order to provide the reproductive option of pregnancy termination of affected males for those families desiring it The purpose of this study is to investigate the efficiency of various methods in determining the carrier risks of females and its effects on decision making for prenatal diagnosis in families with affected children One hundred thirty two different families with 227 DMD patients and 1029 at risk female relatives have been evaluated Pedigree analyses serum CK levels RFLP and Bayesian analyses were used to provide carrier risk estimations Two separate Multiplex gene amplification systems were used to screen 98 DMD patients revealed deletions in 56 57 1 of them In cases where no deletions can be identified carrier detection and prenatal diagnosis was performed by RFLP analysis A total of 158 women were ascertained as definite carriers because of their family histories and elevated serum CK levels Forty four mothers from 65 affected families were found to be informative by linkage analysis using RFLPs and 10 of them were ascertained as carriers The combination of all 3 methods for carrier detection has increased the number of definite carriers to 168 Prenatal diagnosis was carried out in 35 high risk pregnancies and DMD was ascertained in 9 of total 13 male fetuses studied by molecular techniques Key words: Duchenne Muscular Dystrophy Prenatal Diagnosis Carrier Detection, X e bağlı resesif progresif ve letal bir hastalık olan DMD için riskli ailelerde taşıyıcıların belirlenmesi ve bu kadınların yeni gebeliklerinde prenatal tanı uygulanması ailelerin sağlıklı erkek çocuk sahibi olmalarına olanak verir nbsp; Bu çalışmanın amacı DMD li olguların bulunduğu ailelerdeki taşıyıcılık riski olan kadınların belirlenmesinde çeşitli yöntemlerin soy ağacı analizi serum CPK moleküler testler ve Bayesian analizi etkinliğini ve prenatal tanıyı yönlendirmedeki rolünü araştırmaktır nbsp; Bu çalışmada 132 farklı aileden gelen 227 DMD li hasta ve bunların taşıyıcılık riski olan 1029 kadın akrabası incelendi Taşıyıcıların belirlenmesi için aile öyküsü serum CPK düzeyleri RFLP ve Bayes analiz yöntemleri kullanıldı Toplam 98 DMD olgusunda 2 ayrı multiplex gen amplifikasyon sistemi ile yapılan taramada 56 hastada delesyon saptandı 57 1 Pozitif aile öyküsü ve yüksek serum CPK düzeyleri nedeni ile 158 kadının taşıyıcılıkları kesinleşti RFLP ile linkage analizi yapılan 65 ailedeki 44 kadın enformatif bulundu ve bunlardan 10 unun taşıyıcılıkları kesinleşti Böylece üç yöntemin kombine kullanımı ile toplam 168 kadının taşıyıcılıkları kesinleşmiş oldu Yüksek riskli 35 gebelikte prenatal tanı uygulandı Moleküler inceleme yapılabilen 13 erkek fetusdan 9 unun hasta olduğu belirlendi ve bu gebelikler sonlandırıldı Anahtar kelimeler: Duchenne Müsküler Distrofi Prenatal Tanı Taşıyıcılık Tanısı

Published
2014

172. The First Turkish Family with Ulnar Mammary Syndrome

Author

Karaarslan, Neşe, Tükel, Turgut, Kayserili, Hülya, and Apak, Memnune Yüksel

Subjects
body regions
Abstract

Ulnar mammary syndrome UMS is characterized by ulnar limb deficiencies or duplications apocrine mammary gland hypoplasia and or dysfunction abnormal dentition and genital anomalies The syndrome is inherited in an autosomal dominant manner with variable expression and different penetrance It was first described in 1975 by Mc Kusick citing a personal communication with Schinzel 1973 Here we describe a family with 9 affected individuals in 3 generations showing variable expressivity of UMS Key words: Ulnar Mammary Syndrome Pallister Syndrome Polydactyly Oligodactyly Hypoplasia Of Apocrine Glands Hypoplasia Of Mammary Glands Hypogonadism, Ulnar mammary sendromu UMS özellikle üst ekstremite defekt ya da duplikasyonları apokrin ve meme bezlerinde hipoplazi aplazi ya da disfonksiyon köpek dişlerinde düzensizlik ve veya hipoplazi ve genital anomaliler ile seyreden otozomal dominant kalıtımlı bir sendromdur Farklı penetrans ve değişken ekspresivite ile seyreden sendrom ilk kez 1975 yılında Mc Kusick tarafından Schinzel ile 1973 yılında yaptığı kişisel yazışmaya dayanarak tanımlanmış ve adlandırılmıştır Bu yazıda UMS tanısı konan bir ailenin 3 kuşaktaki 9 bireyinde sendromun değişken ekspresivitesini gösteren bulgular tanımlanmıştır Anahtar kelimeler: Ulnar Mammary Sendromu Pallister Sendromu Polidaktili Oligodaktili Apokrin Bez Hipoplazisi Meme Bezi Hipoplazisi Hipogonadizm

Published
2014

173. Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Author

Azakli, Hülya, Akkaya, Ayse Deniz, Aygün, Murat Serhat, Demirkesen, Cüyan, Eraslan, Serpil, and Kayserili, Hülya

Abstract

Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X‐linked dominant, in utero male‐lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full‐blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

174. RADİYAL IŞIN DEFEKTLERİNİN KLİNİK SINIFLANDIRMASI VE ETYOPATOGENEZİNİN ARAŞTIRILMASI.

Author

Avcı, Şahin, Toksoy, Güven, Bağırova, Gülendam, Altunoğlu, Umut, Karaman, Birsen, Başaran, Seher, Kayserili, Hülya, and Uyguner, Z. Oya

Subjects
TRISOMY 18 syndrome, MOLECULAR diagnosis, DIFFERENTIAL diagnosis, ARM, HUMAN abnormalities, PRENATAL diagnosis
Abstract

Copyright of Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi is the property of Istanbul Tip Fakultesi Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018
Full Text
View/download PDF

175. A MULTIDISCIPLINARY CLINICAL APPROACH TO FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: ORTHOPEDIC SURGERY IN FACIOSCAPULOHUMERAL DYSTROPHY.

Author

ÇAKMAK, Özgür Öztop, EREN, İlker, ASLANGER, Ayça, GÜNERBÜYÜK, Caner, KAYSERILI, Hülya, OFLAZER, Piraye, ŞAR, Cüneyt, DEMIRHAN, Mehmet, and ÖZDEMIR, Yasemin Gürsoy

Subjects
FACIOSCAPULOHUMERAL muscular dystrophy, MAGNETIC resonance imaging, ARTHRODESIS, ELECTROCARDIOGRAPHY, MUSCULAR dystrophy
Abstract

Copyright of Clinical Neuroscience / Ideggyógyászati Szemle is the property of LifeTime Media Kft. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2018
Full Text
View/download PDF

176. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Author

Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hülya, Lucassen, Anneke, Mendes, Álvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tassé, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., and Cornel, Martina C.

Abstract

Sudden cardiac death (SCD) accounts for 10–20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

Published
2019
Full Text
View/download PDF

177. Cantú Syndrome Is Caused by Mutations in ABCC9

Author

van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., and Hoischen, Alexander

Published
2012
Full Text
View/download PDF

178. DISP1deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Author

Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quelin, Chloe, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott, Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Mederic, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora Dupont, Eleonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, and Dupé, Valérie

Abstract

DISP1encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog,a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.

Published
2024
Full Text
View/download PDF

180. Points to consider for prioritizing clinical genetic testing services : a European consensus process oriented at accountability for reasonableness

Author

Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, Rogowski, Wolf H, Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, and Rogowski, Wolf H

Abstract

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.

Published
2015
Full Text
View/download PDF

181. Points to consider for prioritizing clinical genetic testing services:a European consensus process oriented at accountability for reasonableness

Author

Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, Rogowski, Wolf H, Severin, Franziska, Borry, Pascal, Cornel, Martina C, Daniels, Norman, Fellmann, Florence, Victoria Hodgson, Shirley, Howard, Heidi C, John, Jürgen, Kääriäinen, Helena, Kayserili, Hülya, Kent, Alastair, Koerber, Florian, Kristoffersson, Ulf, Kroese, Mark, Lewis, Celine, Marckmann, Georg, Meyer, Peter, Pfeufer, Arne, Schmidtke, Jörg, Skirton, Heather, Tranebjærg, Lisbeth, and Rogowski, Wolf H

Abstract

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.European Journal of Human Genetics advance online publication, 24 September 2014; doi:10.1038/ejhg.2014.190.

Published
2015

182. NovelDDR2mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type

Author

Mansouri, Maria, primary, Kayserili, Hülya, additional, Elalaoui, Siham Chafai, additional, Nishimura, Gen, additional, Iida, Aritoshi, additional, Lyahyai, Jaber, additional, Miyake, Noriko, additional, Matsumoto, Naomichi, additional, Sefiani, Abdelaziz, additional, and Ikegawa, Shiro, additional

Published
2015
Full Text
View/download PDF

183. DOCK6Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Author

Sukalo, Maja, primary, Tilsen, Felix, additional, Kayserili, Hülya, additional, Müller, Dietmar, additional, Tüysüz, Beyhan, additional, Ruddy, Deborah M., additional, Wakeling, Emma, additional, Ørstavik, Karen Helene, additional, Bramswig, Nuria C., additional, Snape, Katie M., additional, Trembath, Richard, additional, De Smedt, Maryse, additional, van der Aa, Nathalie, additional, Skalej, Martin, additional, Mundlos, Stefan, additional, Wuyts, Wim, additional, Southgate, Laura, additional, and Zenker, Martin, additional

Published
2015
Full Text
View/download PDF

184. De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Author

Tomas-Roca, Laura, primary, Tsaalbi-Shtylik, Anastasia, additional, Jansen, Jacob G., additional, Singh, Manvendra K., additional, Epstein, Jonathan A., additional, Altunoglu, Umut, additional, Verzijl, Harriette, additional, Soria, Laura, additional, van Beusekom, Ellen, additional, Roscioli, Tony, additional, Iqbal, Zafar, additional, Gilissen, Christian, additional, Hoischen, Alexander, additional, de Brouwer, Arjan P. M., additional, Erasmus, Corrie, additional, Schubert, Dirk, additional, Brunner, Han, additional, Pérez Aytés, Antonio, additional, Marin, Faustino, additional, Aroca, Pilar, additional, Kayserili, Hülya, additional, Carta, Arturo, additional, de Wind, Niels, additional, Padberg, George W., additional, and van Bokhoven, Hans, additional

Published
2015
Full Text
View/download PDF

185. Mutations inCDK 5 RAP 2cause Seckel syndrome

Author

Yigit, Gökhan, primary, Brown, Karen E., additional, Kayserili, Hülya, additional, Pohl, Esther, additional, Caliebe, Almuth, additional, Zahnleiter, Diana, additional, Rosser, Elisabeth, additional, Bögershausen, Nina, additional, Uyguner, Zehra Oya, additional, Altunoglu, Umut, additional, Nürnberg, Gudrun, additional, Nürnberg, Peter, additional, Rauch, Anita, additional, Li, Yun, additional, Thiel, Christian Thomas, additional, and Wollnik, Bernd, additional

Published
2015
Full Text
View/download PDF

187. DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Author

White, Janson, primary, Mazzeu, Juliana F., additional, Hoischen, Alexander, additional, Jhangiani, Shalini N., additional, Gambin, Tomasz, additional, Alcino, Michele Calijorne, additional, Penney, Samantha, additional, Saraiva, Jorge M., additional, Hove, Hanne, additional, Skovby, Flemming, additional, Kayserili, Hülya, additional, Estrella, Elicia, additional, Vulto-van Silfhout, Anneke T., additional, Steehouwer, Marloes, additional, Muzny, Donna M., additional, Sutton, V. Reid, additional, Gibbs, Richard A., additional, Lupski, James R., additional, Brunner, Han G., additional, van Bon, Bregje W.M., additional, and Carvalho, Claudia M.B., additional

Published
2015
Full Text
View/download PDF

188. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Author

Mishra-Gorur, Ketu, primary, Çağlayan, Ahmet Okay, additional, Schaffer, Ashleigh E., additional, Chabu, Chiswili, additional, Henegariu, Octavian, additional, Vonhoff, Fernando, additional, Akgümüş, Gözde Tuğce, additional, Nishimura, Sayoko, additional, Han, Wenqi, additional, Tu, Shu, additional, Baran, Burçin, additional, Gümüş, Hakan, additional, Dilber, Cengiz, additional, Zaki, Maha S., additional, Hossni, Heba A.A., additional, Rivière, Jean-Baptiste, additional, Kayserili, Hülya, additional, Spencer, Emily G., additional, Rosti, Rasim Ö., additional, Schroth, Jana, additional, Per, Hüseyin, additional, Çağlar, Caner, additional, Çağlar, Çağri, additional, Dölen, Duygu, additional, Baranoski, Jacob F., additional, Kumandaş, Sefer, additional, Minja, Frank J., additional, Erson-Omay, E. Zeynep, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Xu, Tian, additional, Keshishian, Haig, additional, Dobyns, William B., additional, Chi, Neil C., additional, Šestan, Nenad, additional, Louvi, Angeliki, additional, Bilgüvar, Kaya, additional, Yasuno, Katsuhito, additional, Gleeson, Joseph G., additional, and Günel, Murat, additional

Published
2015
Full Text
View/download PDF

189. An unusual cause of nephrotic syndrome: Answers.

Author

Yuruk Yildirim, Zeynep, Ozkan, Melis, Yilmaz, Alev, Kayserili, Hülya, Pehlivanoglu, Cemile, Emre, Sevinc, and Nayir, Ahmet

Subjects
GRANULOCYTE-colony stimulating factor, NEPHROTIC syndrome, AUTOIMMUNE diseases, CHRONIC kidney failure, GROWTH disorders, IMMUNOLOGICAL deficiency syndromes, GENETIC mutation, NEUTROPENIA, DISEASE complications, MULTIPLE epiphyseal dysplasia, GENETICS, DIAGNOSIS, THERAPEUTICS
Abstract

The article presents a case study of a patient with Schimke immunoosseous dysplasia (SIOD). It mentions osteochondrodysplasias associated with nephropathy and immunodeficiency should be considered in the differential diagnosis; and also mentoins neurological symptoms and transient ischemic attacks are also commonly observed in SIOD patients, especially in the severe form.

Published
2019
Full Text
View/download PDF

190. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Author

Mishra-Gorur, Ketu, primary, Çağlayan, Ahmet Okay, additional, Schaffer, Ashleigh E., additional, Chabu, Chiswili, additional, Henegariu, Octavian, additional, Vonhoff, Fernando, additional, Akgümüş, Gözde Tuğce, additional, Nishimura, Sayoko, additional, Han, Wenqi, additional, Tu, Shu, additional, Baran, Burçin, additional, Gümüş, Hakan, additional, Dilber, Cengiz, additional, Zaki, Maha S., additional, Hossni, Heba A.A., additional, Rivière, Jean-Baptiste, additional, Kayserili, Hülya, additional, Spencer, Emily G., additional, Rosti, Rasim Ö., additional, Schroth, Jana, additional, Per, Hüseyin, additional, Çağlar, Caner, additional, Çağlar, Çağri, additional, Dölen, Duygu, additional, Baranoski, Jacob F., additional, Kumandaş, Sefer, additional, Minja, Frank J., additional, Erson-Omay, E. Zeynep, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Xu, Tian, additional, Keshishian, Haig, additional, Dobyns, William B., additional, Chi, Neil C., additional, Šestan, Nenad, additional, Louvi, Angeliki, additional, Bilgüvar, Kaya, additional, Yasuno, Katsuhito, additional, Gleeson, Joseph G., additional, and Günel, Murat, additional

Published
2014
Full Text
View/download PDF

191. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Author

Ansari, Morad, primary, Poke, Gemma, additional, Ferry, Quentin, additional, Williamson, Kathleen, additional, Aldridge, Roland, additional, Meynert, Alison M, additional, Bengani, Hemant, additional, Chan, Cheng Yee, additional, Kayserili, Hülya, additional, Avci, Şahin, additional, Hennekam, Raoul C M, additional, Lampe, Anne K, additional, Redeker, Egbert, additional, Homfray, Tessa, additional, Ross, Alison, additional, Falkenberg Smeland, Marie, additional, Mansour, Sahar, additional, Parker, Michael J, additional, Cook, Jacqueline A, additional, Splitt, Miranda, additional, Fisher, Richard B, additional, Fryer, Alan, additional, Magee, Alex C, additional, Wilkie, Andrew, additional, Barnicoat, Angela, additional, Brady, Angela F, additional, Cooper, Nicola S, additional, Mercer, Catherine, additional, Deshpande, Charu, additional, Bennett, Christopher P, additional, Pilz, Daniela T, additional, Ruddy, Deborah, additional, Cilliers, Deirdre, additional, Johnson, Diana S, additional, Josifova, Dragana, additional, Rosser, Elisabeth, additional, Thompson, Elizabeth M, additional, Wakeling, Emma, additional, Kinning, Esther, additional, Stewart, Fiona, additional, Flinter, Frances, additional, Girisha, Katta M, additional, Cox, Helen, additional, Firth, Helen V, additional, Kingston, Helen, additional, Wee, Jamie S, additional, Hurst, Jane A, additional, Clayton-Smith, Jill, additional, Tolmie, John, additional, Vogt, Julie, additional, Tatton–Brown, Katrina, additional, Chandler, Kate, additional, Prescott, Katrina, additional, Wilson, Louise, additional, Behnam, Mahdiyeh, additional, McEntagart, Meriel, additional, Davidson, Rosemarie, additional, Lynch, Sally-Ann, additional, Sisodiya, Sanjay, additional, Mehta, Sarju G, additional, McKee, Shane A, additional, Mohammed, Shehla, additional, Holden, Simon, additional, Park, Soo-Mi, additional, Holder, Susan E, additional, Harrison, Victoria, additional, McConnell, Vivienne, additional, Lam, Wayne K, additional, Green, Andrew J, additional, Donnai, Dian, additional, Bitner-Glindzicz, Maria, additional, Donnelly, Deirdre E, additional, Nellåker, Christoffer, additional, Taylor, Martin S, additional, and FitzPatrick, David R, additional

Published
2014
Full Text
View/download PDF

197. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6

Author

Szenker-Ravi, Emmanuelle, Altunoglu, Umut, Leushacke, Marc, Bosso-Lefèvre, Célia, Khatoo, Muznah, Tran, Hong, Naert, Thomas, Noelanders, Rivka, Hajamohideen, Amin, Beneteau, Claire, Sousa, Sergio, Karaman, Birsen, Latypova, Xenia, Başaran, Seher, Yücel, Esra, Tan, Thong, Vlaminck, Lena, Nayak, Shalini, Shukla, Anju, Girisha, Katta, Caignec, Cédric, Soshnikova, Natalia, Uyguner, Zehra, Vleminckx, Kris, Barker, Nick, Kayserili, Hülya, and Reversade, Bruno

Abstract

The four R-spondin secreted ligands (RSPO1–RSPO4) act via their cognate LGR4, LGR5 and LGR6 receptors to amplify WNT signalling1–3. Here we report an allelic series of recessive RSPO2mutations in humans that cause tetra-amelia syndrome, which is characterized by lung aplasia and a total absence of the four limbs. Functional studies revealed impaired binding to the LGR4/5/6 receptors and the RNF43 and ZNRF3 transmembrane ligases, and reduced WNT potentiation, which correlated with allele severity. Unexpectedly, however, the triple and ubiquitous knockout of Lgr4, Lgr5and Lgr6in mice did not recapitulate the known Rspo2or Rspo3loss-of-function phenotypes. Moreover, endogenous depletion or addition of exogenous RSPO2 or RSPO3 in triple-knockout Lgr4/5/6cells could still affect WNT responsiveness. Instead, we found that the concurrent deletion of rnf43and znrf3in Xenopusembryos was sufficient to trigger the outgrowth of supernumerary limbs. Our results establish that RSPO2, without the LGR4/5/6 receptors, serves as a direct antagonistic ligand to RNF43 and ZNRF3, which together constitute a master switch that governs limb specification. These findings have direct implications for regenerative medicine and WNT-associated cancers. Independently of the LGR4/5/6 receptors, RSPO2 acts as a direct antagonistic ligand to RNF43 and ZNRF3 during embryogenesis, and specifies the position and number of limbs that an embryo should form.

Published
2018
Full Text
View/download PDF

198. Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Author

Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette, Breugem, Corstiaan, Duran, Karen, Massink, Maarten, Derksen, Patrick, IJcken, Wilfred, Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera, Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, Gassen, Koen, Klein, Annelies, Boogaard, Marie-José H., and Haaften, Gijs

Abstract

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin–catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex. Functional experiments in zebrafish and human cells showed that the CDH1variants impair the cell adhesion function of the cadherin–catenin complex in a dominant-negative manner. Variants in CDH1have been linked to familial hereditary diffuse gastric cancer and invasive lobular breast cancer; however, no cases of gastric or breast cancer have been reported in our BCDS cases. Functional experiments reported here indicated the BCDS variants comprise a distinct class of CDH1variants. Altogether, we identified the genetic cause of BCDS enabling DNA diagnostics and counseling, in addition we describe a novel class of dominant negative CDH1 variants.

Published
2018
Full Text
View/download PDF

199. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.

Author

Schmidts, Miriam, Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R, McInerney-Leo, Aideen M, Emes, Richard D, Arts, Heleen H, Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J, Giles, Tom C, Oud, Machteld M, Harris, Jessica A, Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T, Wilson, Louise C, Janecke, Andreas R, Hurles, Matthew E, Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J, Brown, Matthew A, Beales, Philip L, Wicking, Carol, UK10K, Duncan, Emma L, Mitchison, Hannah M, Schmidts, Miriam, Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R, McInerney-Leo, Aideen M, Emes, Richard D, Arts, Heleen H, Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J, Giles, Tom C, Oud, Machteld M, Harris, Jessica A, Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T, Wilson, Louise C, Janecke, Andreas R, Hurles, Matthew E, Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J, Brown, Matthew A, Beales, Philip L, Wicking, Carol, UK10K, Duncan, Emma L, and Mitchison, Hannah M

Abstract

Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo transport and delivery processes that are essential for primary cilia growth and maintenance and for hedgehog signaling functions. The IFT dynein-2 motor complex that regulates ciliary retrograde protein transport contains a heavy chain dynein ATPase/motor subunit, DYNC2H1, along with other less well functionally defined subunits. Deficiency of IFT proteins, including DYNC2H1, underlies a spectrum of skeletal ciliopathies. Here, by using exome sequencing and a targeted next-generation sequencing panel, we identified a total of 11 mutations in WDR34 in 9 families with the clinical diagnosis of Jeune syndrome (asphyxiating thoracic dystrophy). WDR34 encodes a WD40 repeat-containing protein orthologous to Chlamydomonas FAP133, a dynein intermediate chain associated with the retrograde intraflagellar transport motor. Three-dimensional protein modeling suggests that the identified mutations all affect residues critical for WDR34 protein-protein interactions. We find that WDR34 concentrates around the centrioles and basal bodies in mammalian cells, also showing axonemal staining. WDR34 coimmunoprecipitates with the dynein-1 light chain DYNLL1 in vitro, and mining of proteomics data suggests that WDR34 could represent a previously unrecognized link between the cytoplasmic dynein-1 and IFT dynein-2 motors. Together, these data show that WDR34 is critical for ciliary functions essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-IFT machinery.

Published
2013

200. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Author

Johnston, Jennifer J, Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G, Johnston, Jennifer J, Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun-Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, and Biesecker, Leslie G

Abstract

A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands here. This includes 19 probands (12 mutations) who fulfilled clinical criteria for GCPS or PHS, 48 probands (16 mutations) with features of GCPS or PHS but who did not meet the clinical criteria (sub-GCPS and sub-PHS), 21 probands (6 mutations) with features of PHS or GCPS and oral-facial-digital syndrome, and 5 probands (1 mutation) with nonsyndromic polydactyly. These data support previously identified genotype-phenotype correlations and demonstrate a more variable degree of severity than previously recognized. The finding of GLI3 mutations in patients with features of oral-facial-digital syndrome supports the observation that GLI3 interacts with cilia. We conclude that the phenotypic spectrum of GLI3 mutations is broader than that encompassed by the clinical diagnostic criteria, but the genotype-phenotype correlation persists. Individuals with features of either GCPS or PHS should be screened for mutations in GLI3 even if they do not fulfill clinical criteria.

Published
2010

Catalog

Books, media, physical & digital resources
See catalog results