New mutations, new database
10 May 2012
The CHARGE syndrome is a rare genetic malformation disorder in which several organ systems, such as eye, ear and nose are affected. CHARGE is the leading cause of congenital deafblindness. The syndrome is caused by mutations in CHD7, a member of the CHD protein family that plays a role in transcription regulation. In a review in Human Mutation, Nicole Janssen, NBIC Faculty Swertz and colleagues from the University Medical Centre Groningen discuss all currently described CHD7 variants, including 183 new pathogenic mutations identified by the authors. They also present a dedicated, locus-specific database that lists all CHD7 variants. The database is accessible at: http://www.CHD7.org .
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM and Hoefsloot LH
Mutation update on the CHD7 gene involved in CHARGE syndrome
Hum Mut 2012, doi:10.1002/humu.22086