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.


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


  • DNA-Binding Proteins
  • DNA Helicases
  • CHD7 protein, human