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DOI 10.1086/520677

Медицинская библиотека · American journal of human genetics · 2007

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

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

Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: 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. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.. American journal of human genetics. 2007. DOI: 10.1086/520677.

Предметные рубрики MeSH

Abnormalities, MultipleHeadHumansMaleX-Linked Intellectual DisabilityMutationPedigreeSequence AlignmentTranscription FactorsBromodomain Containing Proteins
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