Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/44335
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dc.contributor.authorField, M.en
dc.contributor.authorTarpey, P.en
dc.contributor.authorSmith, R.en
dc.contributor.authorEdkins, S.en
dc.contributor.authorO'Meara, S.en
dc.contributor.authorStevens, C.en
dc.contributor.authorTofts, C.en
dc.contributor.authorTeague, J.en
dc.contributor.authorButler, A.en
dc.contributor.authorDicks, E.en
dc.contributor.authorBarthorpe, S.en
dc.contributor.authorBuck, G.en
dc.contributor.authorCole, J.en
dc.contributor.authorGray, K.en
dc.contributor.authorHalliday, K.en
dc.contributor.authorHills, K.en
dc.contributor.authorJenkinson, A.en
dc.contributor.authorJones, D.en
dc.contributor.authorMenzies, A.en
dc.contributor.authorMironenko, T.en
dc.contributor.authoret al.en
dc.date.issued2007en
dc.identifier.citationAmerican Journal of Human Genetics, 2007; 81(2):367-374en
dc.identifier.issn0002-9297en
dc.identifier.issn1537-6605en
dc.identifier.urihttp://hdl.handle.net/2440/44335-
dc.description.abstractIn 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.en
dc.description.statementofresponsibilityMichael 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, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo, Helen Hughes, Marie Shaw, Kathryn L. Friend, Mark Corbett, Gillian Turner, Michael Partington, John Mulley, Martin Bobrow, Charles Schwartz, Roger Stevenson, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymonden
dc.language.isoenen
dc.publisherUniv Chicago Pressen
dc.rightsCopyright © 2007 The American Society of Human Genetics. All rights reserved.en
dc.source.urihttp://www.ajhg.org/AJHG/abstract/S0002-9297(07)61201-4en
dc.subjectHead; Humans; Mental Retardation, X-Linked; Abnormalities, Multiple; Transcription Factors; Pedigree; Sequence Alignment; Mutation; Maleen
dc.titleMutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyen
dc.typeJournal articleen
dc.identifier.rmid0020072379en
dc.identifier.doi10.1086/520677en
dc.identifier.pubid47712-
pubs.library.collectionMolecular and Biomedical Science publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidShaw, M. [0000-0002-5060-190X]en
dc.identifier.orcidCorbett, M. [0000-0001-9298-3072]en
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Molecular and Biomedical Science publications

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