Mutations in the CHD7 gene: the experience of a commercial laboratory

• Published in: Genetic testing and molecular biomarkers Vol. 14; no. 6; p. 881
• Main Authors: Bartels, Cynthia F, Scacheri, Cheryl, White, Lashonda, Scacheri, Peter C, Bale, Sherri
• Format: Journal Article
• Language: English
• Published: United States 01.12.2010
• Subjects: CHARGE Syndrome - diagnosis; CHARGE Syndrome - genetics; Cohort Studies; DNA Helicases - genetics; DNA Mutational Analysis; DNA-Binding Proteins - genetics; Gene Dosage; Genetic Testing; Humans; Laboratories, Hospital; Mutation; United States; United States

CHARGE syndrome is an autosomal dominant multisystem disorder caused by mutation in the CHD7 gene, encoding chromodomain helicase DNA-binding protein 7. Molecular diagnostic testing for CHD7 mutation has been available in a clinical setting since 2005. We report here the results from the first 642 u...