{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T06:35:34Z","timestamp":1791959734894,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T00:00:00Z","timestamp":1511740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French Ministry of Health","award":["N\u00b0ID-RCB: 2010-A00700-39"],"award-info":[{"award-number":["N\u00b0ID-RCB: 2010-A00700-39"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>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 <jats:italic>CHD7<\/jats:italic> 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 <jats:italic>CHD7<\/jats:italic> gene varies from 67% to 90%. To try to have an overview of this heterogenous clinical condition and specify a genotype\u2013phenotype 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 &amp; Prasad (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#ajmgc31591-bib-0005\"\/>). Besides obtaining a detailed clinical description, when possible, patients underwent a full ophthalmologic examination, audiometry, temporal bone CT scan, gonadotropin analysis, and olfactory\u2010bulb MRI. All patients underwent <jats:italic>CHD7<\/jats:italic> sequencing and MLPA analysis. We found a pathogenic <jats:italic>CHD7<\/jats:italic> variant in 83% of typical CS cases and 58% of atypical cases. Pathogenic variants in the <jats:italic>CHD7<\/jats:italic> 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\u2010shaped face (81%), and arhinencephaly\/anosmia (80%). Coloboma (73%), heart defects (65%), and choanal atresia (43%) were less frequent.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31591","type":"journal-article","created":{"date-parts":[[2017,11,27]],"date-time":"2017-11-27T05:06:56Z","timestamp":1511759216000},"page":"417-430","source":"Crossref","is-referenced-by-count":81,"title":["Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome"],"prefix":"10.1002","volume":"175","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1622-2962","authenticated-orcid":false,"given":"Marine","family":"Legendre","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, CHU de Poitiers Poitiers France"},{"name":"EA 3808, Universit\u00e9 de Poitiers Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Abadie","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie G\u00e9n\u00e9rale, H\u00f4pital Universitaire Necker\u2010Enfants 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