| Literature DB >> 27193221 |
Sébastien Moutton1,2, Patricia Fergelot1,2,3, Sophie Naudion1, Marie-Pierre Cordier4, Guilhem Solé2,5, Elodie Guerineau2, Christophe Hubert3, Caroline Rooryck1,2, Marie-Laure Vuillaume1,2, Nada Houcinat1,2, Julie Deforges1, Julie Bouron1, Sylvie Devès1, Martine Le Merrer6, Albert David7, David Geneviève8, Fabienne Giuliano9, Hubert Journel10, André Megarbane11, Laurence Faivre12, Nicolas Chassaing13, Christine Francannet14, Elisabeth Sarrazin15, Eva-Lena Stattin16, Jacqueline Vigneron17, Danielle Leclair18, Caroline Abadie8, Pierre Sarda8, Clarisse Baumann19, Marie-Ange Delrue1, Benoit Arveiler1,2, Didier Lacombe1,2, Cyril Goizet1,2, Isabelle Coupry2.
Abstract
Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions. FLNA encodes filamin A, a scaffolding actin-binding protein. Here, we report phenotypic descriptions and molecular results of FLNA analysis in a large series of 27 probands hypothesized to be affected by OPDSD. We identified 11 different missense mutations in 15 unrelated probands (n=15/27, 56%), of which seven were novel, including one of unknown significance. Segregation analyses within families made possible investigating 20 additional relatives carrying a mutation. This series allows refining the phenotypic and mutational spectrum of FLNA mutations causing OPDSD, and providing suggestions to avoid the overdiagnosis of OPD1.Entities:
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Year: 2016 PMID： 27193221 DOI： 10.1038/jhg.2016.37
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172