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- Title
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
- Authors
Vissers, Lisenka E. L. M.; van Ravenswaaij, Conny M. A.; Admiraal, Ronald; Hurst, Jane A.; de Vries, Bert B. A.; Janssen, Irene M.; van der Vliet, Walter A.; Huys, Erik H. L. P. G.; de Jong, Pieter J.; Hamel, Ben C. J.; Schoenmakers, Eric F. P. M.; Brunner, Han G.; Veltman, Joris A.; van Kessel, Ad Geurts
- Abstract
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.
- Subjects
CHROMOSOMES; GENOMICS; COMPARATIVE genomic hybridization; GENETIC mutation; GENES; TISSUES
- Publication
Nature Genetics, 2004, Vol 36, Issue 9, p955
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1407