Mutations in the BRWD3
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- 作者：Michael Field ; Patrick S. Tarpey ; Raffaella Smith ; Sarah Edkins ; Sarah O’ ; Meara ; Claire Stevens ; Calli Tofts ; Jon Teague ; Adam Butler ; Ed Dicks ; Syd Barthorpe ; Gemma Buck ; Jennifer Cole ; Kristian Gray ; Kelly Halliday ; Katy Hills ; Andrew Jenkinson ; David Jones ; Andrew Menzies ; Tatiana Mironenko
- 刊名：The American Journal of Human Genetics
- 出版年：2007
- 出版时间：August 2007
- 年：2007
- 卷：81
- 期：2
- 页码：367-374
- 全文大小：423 K
文摘
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.