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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre, Marine; Abadie, Véronique; Attié-Bitach, Tania; Philip, Nicole; Busa, Tiffany; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Lacombe, Didier; Toutain, Annick; Blesson, Sophie; Julia, Sophie; Martin-Coignard, Dominique; Geneviève, David; Leheup, Bruno; Odent, Sylvie; Jouk, Pierre-Simon; Mercier, Sandra; Faivre, Laurence; Vincent-Delorme, Catherine; Francannet, Christine; Naudion, Sophie; Mathieu-Dramard, Michèle; Delrue, Marie-Ange; Goldenberg, Alice; Héron, Delphine; Parent, Philippe; Touraine, Renaud; Layet, Valérie; Sanlaville, Damien; Quélin, Chloé; Moutton, Sébastien; Fradin, Mélanie; Jacquette, Aurélia; Sigaudy, Sabine; Pinson, Lucile; Sarda, Pierre; Guerrot, Anne-Marie; Rossi, Massimiliano; Masurel-Paulet, Alice; El Chehadeh, Salima; Piguel, Xavier; Rodriguez-Ballesteros, Montserrat; Ragot, Stéphanie; Lyonnet, Stanislas; Bilan, Frédéric; Gilbert-Dussardier, Brigitte.
Am J Med Genet C Semin Med Genet; 175(4): 417-430, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29178447
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%. To try to have an overview of this heterogenous clinical condition and specify a genotype-phenotype relation, we conducted a national study of phenotype and genotype in 119 patients with CS. Selected clinical diagnostic criteria were from Verloes (2005), updated by Blake & Prasad (). Besides obtaining a detailed clinical description, when possible, patients underwent a full ophthalmologic examination, audiometry, temporal bone CT scan, gonadotropin analysis, and olfactory-bulb MRI. All patients underwent CHD7 sequencing and MLPA analysis. We found a pathogenic CHD7 variant in 83% of typical CS cases and 58% of atypical cases. Pathogenic variants in the CHD7 gene were classified by the expected impact on the protein. In all, 90% of patients had a typical form of CS and 10% an atypical form. The most frequent features were deafness/semicircular canal hypoplasia (94%), pituitary defect/hypogonadism (89%), external ear anomalies (87%), square-shaped face (81%), and arhinencephaly/anosmia (80%). Coloboma (73%), heart defects (65%), and choanal atresia (43%) were less frequent.
Selo DaSilva