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

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.

SUBMITTER: Field M 

PROVIDER: S-EPMC1950797 | biostudies-literature | 2007 Aug

REPOSITORIES: biostudies-literature

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

Field Michael M   Tarpey Patrick S PS   Smith Raffaella R   Edkins Sarah S   O'Meara Sarah S   Stevens Claire C   Tofts Calli C   Teague Jon J   Butler Adam A   Dicks Ed E   Barthorpe Syd S   Buck Gemma G   Cole Jennifer J   Gray Kristian K   Halliday Kelly K   Hills Katy K   Jenkinson Andrew A   Jones David D   Menzies Andrew A   Mironenko Tatiana T   Perry Janet J   Raine Keiran K   Richardson David D   Shepherd Rebecca R   Small Alexandra A   Varian Jennifer J   West Sofie S   Widaa Sara S   Mallya Uma U   Wooster Richard R   Moon Jenny J   Luo Ying Y   Hughes Helen H   Shaw Marie M   Friend Kathryn L KL   Corbett Mark M   Turner Gillian G   Partington Michael M   Mulley John J   Bobrow Martin M   Schwartz Charles C   Stevenson Roger R   Gecz Jozef J   Stratton Michael R MR   Futreal P Andrew PA   Raymond F Lucy FL  

American journal of human genetics 20070626 2

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  ...[more]

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