Ontology highlight
ABSTRACT:
SUBMITTER: Field M
PROVIDER: S-EPMC1950797 | biostudies-literature | 2007 Aug
REPOSITORIES: biostudies-literature
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]