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Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly |
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| Authors: | 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 |
| Affiliation: | a From the GOLD Service, Hunter Genetics, Waratah, Australia b Cancer Genome Project, Wellcome Trust Sanger Institute, Hinxton United Kingdom c Cambridge Institute of Medical Research, University of Cambridge, Cambridge, United Kingdom d Medical Genetics, Ysbyty Gwynedd, Bangor, United Kingdom e Department of Genetic Medicine, Women’s and Children’s Hospital, Adelaide, and Departments of Paediatrics and Molecular Biosciences, University of Adelaide, Adelaide f J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood |
| 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. |
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