Format

Send to

Choose Destination
See comment in PubMed Commons below
Am J Hum Genet. 2007 Aug;81(2):367-74. Epub 2007 Jun 26.

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

Author information

  • 1GOLD Service, Hunter Genetics, Waratah, Australia.

Abstract

In the course of systematic screening of the X-chromosome coding sequences in 250 families with nonsyndromic X-linked mental retardation (XLMR), two families were identified with truncating mutations in BRWD3, a gene encoding a bromodomain and WD-repeat domain-containing protein. In both families, the mutation segregates with the phenotype in affected males. Affected males have macrocephaly with a prominent forehead, large cupped ears, and mild-to-moderate intellectual disability. No truncating variants were found in 520 control X chromosomes. BRWD3 is therefore a new gene implicated in the etiology of XLMR associated with macrocephaly and may cause disease by altering intracellular signaling pathways affecting cellular proliferation.

PMID:
17668385
PMCID:
PMC1950797
DOI:
10.1086/520677
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center