Article
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
European journal of human genetics : EJHG - 1 Jul 2016
Barat-Houari Mouna, Dumont Bruno, Fabre Aurélie, Them Frédéric Tm, Alembik Yves, Alessandri Jean-Luc, Amiel Jeanne, Audebert Séverine, Baumann-Morel Clarisse, Blanchet Patricia, Bieth Eric, Brechard Marie, Busa Tiffany, Calvas Patrick, Capri Yline, Cartault François, Chassaing Nicolas, Ciorca Vidrica, Coubes Christine, David Albert, Delezoide Anne-Lise, Dupin-Deguine Delphine, El Chehadeh Salima, Faivre Laurence, Giuliano Fabienne, Goldenberg Alice, Isidor Bertrand, Jacquemont Marie-Line, Julia Sophie, Kaplan Josseline, Lacombe Didier, Lebrun Marine, Marlin Sandrine, Martin-Coignard Dominique, Martinovic Jelena, Masurel Alice, Melki Judith, Mozelle-Nivoix Monique, Nguyen Karine, Odent Sylvie, Philip Nicole, Pinson Lucile, Plessis Ghislaine, Quélin Chloé, Shaeffer Elise, Sigaudy Sabine, Thauvin Christel, Till Marianne, Touraine Renaud, Vigneron Jacqueline, Baujat Geneviève, Cormier-Daire Valérie, Le Merrer Martine, Geneviève David, Touitou Isabelle
Abstract excerpt
Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different...
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