Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E L M Vissers; Conny M A van Ravenswaaij; Ronald Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A van der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris A Veltman; Ad Geurts van Kessel

doi:10.1038/ng1407

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Nat Genet. 2004 Sep;36(9):955-7. doi: 10.1038/ng1407. Epub 2004 Aug 8.

Authors

Lisenka E L M Vissers¹, Conny M A van Ravenswaaij, Ronald Admiraal, Jane A Hurst, Bert B A de Vries, Irene M Janssen, Walter A van der Vliet, Erik H L P G Huys, Pieter J de Jong, Ben C J Hamel, Eric F P M Schoenmakers, Han G Brunner, Joris A Veltman, Ad Geurts van Kessel

Affiliation

¹ Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

PMID: 15300250
DOI: 10.1038/ng1407

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Choanal Atresia / genetics*
Coloboma / genetics
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Deafness / genetics
Gene Deletion
Heart Defects, Congenital / genetics*
Humans
Mutation*
Sequence Analysis, DNA
Syndrome

Substances

DNA-Binding Proteins
DNA Helicases
CHD7 protein, human