Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
dc.contributor.author | Allali, Slimane | |
dc.contributor.author | Le Goff, Carine | |
dc.contributor.author | Pressac-Diebold, Isabelle | |
dc.contributor.author | Pfennig, Gwendoline | |
dc.contributor.author | Mahaut, Clementine | |
dc.contributor.author | Dagoneau, Nathalie | |
dc.contributor.author | Alanay, Yasemin | |
dc.contributor.author | Brady, Angela F. | |
dc.contributor.author | Crow, Yanick J. | |
dc.contributor.author | Devriendt, Koen | |
dc.contributor.author | Drouin-Garraud, Valerie | |
dc.contributor.author | Flori, Elisabeth | |
dc.contributor.author | Genevieve, David | |
dc.contributor.author | Hennekam, Raoul C. | |
dc.contributor.author | Hurst, Jane | |
dc.contributor.author | Krakow, Deborah | |
dc.contributor.author | Le Merrer, Martine | |
dc.contributor.author | Lichtenbelt, Klaske D. | |
dc.contributor.author | Lynch, Sally A. | |
dc.contributor.author | Lyonnet, Stanislas | |
dc.contributor.author | MacDermot, Kay | |
dc.contributor.author | Mansour, Sahar | |
dc.contributor.author | Megarbane, Andre | |
dc.contributor.author | Santos, Heloisa G. | |
dc.contributor.author | Splitt, Miranda | |
dc.contributor.author | Superti-Furga, Andrea | |
dc.contributor.author | Unger, Sheila | |
dc.contributor.author | Williams, Denise | |
dc.contributor.author | Munnich, Arnold | |
dc.contributor.author | Cormier-Daire, Valerie | |
dc.date.accessioned | 2019-12-10T10:41:11Z | |
dc.date.available | 2019-12-10T10:41:11Z | |
dc.date.issued | 2011 | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.uri | https://doi.org/10.1136/jmg.2010.087544 | |
dc.identifier.uri | http://hdl.handle.net/11655/14166 | |
dc.description.abstract | Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2). Methods Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n=20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n=19). Results The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. Conclusions It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene. | |
dc.language.iso | en | |
dc.publisher | B M J Publishing Group | |
dc.relation.isversionof | 10.1136/jmg.2010.087544 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia | |
dc.type | info:eu-repo/semantics/article | |
dc.relation.journal | Journal Of Medical Genetics | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 48 | |
dc.identifier.issue | 6 | |
dc.identifier.startpage | 417 | |
dc.identifier.endpage | 421 | |
dc.description.index | WoS |