RGD Reference Report - Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. - Rat Genome Database
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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.

Authors: Wessels, K  Bohnhorst, B  Luhmer, I  Morlot, S  Bohring, A  Jonasson, J  Epplen, JT  Gadzicki, D  Glaser, S  Gohring, G  Malzer, M  Hein, A  Arslan-Kirchner, M  Stuhrmann, M  Schmidtke, J  Pabst, B 
Citation: Wessels K, etal., Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30.
RGD ID: 11535041
Pubmed: (View Article at PubMed) PMID:20624498
DOI: Full-text: DOI:10.1016/j.ejmg.2010.07.002

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.


Disease Annotations    
CHARGE syndrome  (IAGP,ISO)

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Chd7  (chromodomain helicase DNA binding protein 7)

Genes (Mus musculus)
Chd7  (chromodomain helicase DNA binding protein 7)

Genes (Homo sapiens)
CHD7  (chromodomain helicase DNA binding protein 7)

Additional Information