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

Marine Legendre Véronique Abadie 1 Tania Attié-Bitach 2 Nicole Philip 3, 4 Tiffany Busa 3, 4 Dominique Bonneau 5, 6 Estelle Colin 7, 6 Hélène Dollfus 8 Didier Lacombe 9 Annick Toutain 10 Sophie Blesson 10 Sophie Julia 11 Dominique Martin-Coignard 12 David Geneviève 13 Bruno Leheup 14 Sylvie Odent 15 Pierre Jouk Sandra Mercier 16 Laurence Faivre 17 Catherine Vincent-Delorme 18 Christine Francannet 19 Sophie Naudion Michèle Mathieu-Dramard 20 Marie-Ange Delrue 21 Alice Goldenberg 22 Delphine Héron 23 Philippe Parent 24 Renaud Touraine 25 Valérie Layet 26 Damien Sanlaville 27 Chloé Quélin 28 Sébastien Moutton 29 Mélanie Fradin 15 Aurélia Jacquette 23 Sabine Sigaudy 3, 4 Lucile Pinson 30 Pierre Sarda 31 Anne-Marie Guerrot 32 Massimiliano Rossi 27 Alice Masurel-Paulet 29 Salima El Chehadeh 33 Xavier Piguel 34 Montserrat Rodriguez-Ballesteros Stéphanie Ragot 35 Stanislas Lyonnet 2 Frederic Bilan 36 Brigitte Gilbert-Dussardier 37, *
* Auteur correspondant
Abstract : 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 (2006). 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.
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01691932
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Dernière modification le : mercredi 14 octobre 2020 - 03:50:30
Archivage à long terme le : : mardi 25 septembre 2018 - 19:51:52

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Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, et al.. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩. ⟨hal-01691932⟩

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