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

Marine Legendre 1, 2, 3 Véronique Abadie 4, 5 Tania Attié-Bitach 6, 7 Nicole Philip 8, 9 Tiffany Busa 8, 9 Dominique Bonneau 10, 11 Estelle Colin 11, 10 Hélène Dollfus 12 Didier Lacombe 13, 14 Annick Toutain 15 Sophie Blesson 15 Sophie Julia 16 Dominique Martin-Coignard 17 David Geneviève 18, 19 Bruno Leheup 20 Sylvie Odent 21 Pierre-Simon Jouk 22 Sandra Mercier 23 Laurence Faivre 24 Catherine Vincent-Delorme 25 Christine Francannet 26 Sophie Naudion 14 Michèle Mathieu-Dramard 27 Marie-Ange Delrue 14 Alice Goldenberg 28 Delphine Héron 29 Philippe Parent 30 Renaud Touraine 31 Valérie Layet Damien Sanlaville 32 Chloé Quélin 21 Sébastien Moutton 14 Mélanie Fradin 21 Aurélia Jacquette 29 Sabine Sigaudy 8, 9 Lucile Pinson 33, 18 Pierre Sarda 33, 18 Anne-Marie Guerrot 28 Massimiliano Rossi 32 Alice Masurel-Paulet 34 Salima El Chehadeh 35, 34 Xavier Piguel 36 Montserrat Rodriguez-Ballesteros 2 Stéphanie Ragot 1 Stanislas Lyonnet 6, 7 Frederic Bilan 37, 3 Brigitte Gilbert-Dussardier 37, 3, * 
* Auteur correspondant
7 Equipe Inserm U1163 - Embryology and genetics of human malformation
IMAGINE - U1163 - Imagine - Institut des maladies génétiques
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 23 novembre 2022 - 11:19:45
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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, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩. ⟨hal-01691932⟩

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