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

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    831 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)955-957
    Number of pages3
    JournalNature Genetics
    Issue number9
    Publication statusPublished - Sep-2004


    • 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

    Cite this