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NovelCHD7mutations contributing to the mutation spectrum in patients with CHARGE syndrome

Authors
Journal
European Journal of Medical Genetics
1769-7212
Publisher
Elsevier
Publication Date
Volume
53
Issue
5
Identifiers
DOI: 10.1016/j.ejmg.2010.07.002
Keywords
  • Charge Syndrome
  • Chd7
  • Mutation
  • Mlpa
  • Detection Rate
  • Clinical Variability
Disciplines
  • Biology
  • Medicine

Abstract

Abstract CHARGE syndrome is an autosomal dominant inherited multiple malformation disorder typically characterized by coloboma, choanal atresia, hypoplastic semicircular canal, cranial nerve defects, cardiovascular malformations and ear abnormalities. Mutations in the chromodomain helicase DNA-binding protein 7 ( CHD7) gene are the major cause of CHARGE syndrome. Mutation analysis was performed in 18 patients with firm or tentative clinical diagnosis of CHARGE syndrome. In this study eight mutations distributed across the gene were found. Five novel mutations – one missense (c.2936T > C), one nonsense (c.8093C > A) and three frameshift mutations (c.804_805insAT, c.1757_1770del14, c.1793delA) – were identified. As far as familial data were available these mutations were found to have arisen de novo. Comparison of the clinical features of patients with the same mutation demonstrates that expression of the phenotype is highly variable. The mutation detection rate in this study was 44.4% in patients with a clinically established or suspected diagnosis of CHARGE syndrome.

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