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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.

Original publication

DOI

10.1086/520677

Type

Journal

American journal of human genetics

Publication Date

08/2007

Volume

81

Pages

367 - 374

Addresses

GOLD Service, Hunter Genetics, Waratah, Australia.

Keywords

Head, Humans, Mental Retardation, X-Linked, Abnormalities, Multiple, Transcription Factors, Pedigree, Sequence Alignment, Mutation, Male