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

AI Article Synopsis

  • CHARGE syndrome (CS) is a genetic disorder characterized by features such as coloboma, heart disease, and hearing problems, primarily linked to mutations in the CHD7 gene.
  • A study analyzed 119 patients with CS, revealing pathogenic CHD7 variants in 83% of typical cases and 58% of atypical cases, confirming a strong correlation between genotype and phenotype.
  • Common symptoms included hearing loss (94%), pituitary defects (89%), and ear anomalies (87%), while less frequent traits were coloboma (73%) and heart defects (65%).

Article 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 (). 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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Source
http://dx.doi.org/10.1002/ajmg.c.31591DOI Listing

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