CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

CHARGE syndrome involves multiple congenital anomalies caused by mutations in the CHD7 gene. In our study, we evaluated the clinical characteristics of 280 patients with CHD7 mutations and confirmed that the clinical presentation is highly variable. Even family members, who all had the same mutation, were variably affected. We also report some individuals who have very few features of CHARGE syndrome. We conclude that CHARGE syndrome is primarily a clinical diagnosis, but genetic analysis of CHD7 is helpful in confirming the diagnosis in mildly affected patients. We propose guidelines for CHD7 analysis and have revised the recommendations for monitoring patients with CHARGE syndrome. (By Jorieke EH Bergman, MD )

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