Article
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
American journal of human genetics - 1 Aug 2007
Field Michael, Tarpey Patrick S, Smith Raffaella, Edkins Sarah, O'Meara Sarah, Stevens Claire, Tofts Calli, Teague Jon, Butler Adam, Dicks Ed, Barthorpe Syd, Buck Gemma, Cole Jennifer, Gray Kristian, Halliday Kelly, Hills Katy, Jenkinson Andrew, Jones David, Menzies Andrew, Mironenko Tatiana, Perry Janet, Raine Keiran, Richardson David, Shepherd Rebecca, Small Alexandra, Varian Jennifer, West Sofie, Widaa Sara, Mallya Uma, Wooster Richard, Moon Jenny, Luo Ying, Hughes Helen, Shaw Marie, Friend Kathryn L, Corbett Mark, Turner Gillian, Partington Michael, Mulley John, Bobrow Martin, Schwartz Charles, Stevenson Roger, Gecz Jozef, Stratton Michael R, Futreal P Andrew, Raymond F Lucy
Abstract excerpt
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...
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