The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

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 dyspla...

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Published in:	European journal of human genetics : EJHG Vol. 24; no. 7; pp. 992 - 1000
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-07-2016
Subjects:	Amino Acid Substitution Arginine Arthritis - genetics Arthritis - pathology Bone dysplasia Collagen Collagen (type II) Collagen Diseases - genetics Collagen Diseases - pathology Collagen Type II - chemistry Collagen Type II - genetics Congenital diseases Connective Tissue Diseases - genetics Connective Tissue Diseases - pathology Dysplasia Female Genes Genotype & phenotype Genotypes Glycine Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology Humans Life Sciences Male Mutation Myopia Osteochondrodysplasias - genetics Osteochondrodysplasias - pathology Patients Pedigree Phenotype Phenotypes Protein Domains Retinal Detachment - genetics Retinal Detachment - pathology Skeleton France
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