Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-08

AUTHORS

Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Elodie Guerineau, Christophe Hubert, Caroline Rooryck, Marie-Laure Vuillaume, Nada Houcinat, Julie Deforges, Julie Bouron, Sylvie Devès, Martine Le Merrer, Albert David, David Geneviève, Fabienne Giuliano, Hubert Journel, André Megarbane, Laurence Faivre, Nicolas Chassaing, Christine Francannet, Elisabeth Sarrazin, Eva-Lena Stattin, Jacqueline Vigneron, Danielle Leclair, Caroline Abadie, Pierre Sarda, Clarisse Baumann, Marie-Ange Delrue, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Isabelle Coupry

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. More... »

PAGES

693-699

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.37

DOI

http://dx.doi.org/10.1038/jhg.2016.37

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1006054392

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27193221


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