Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.
Publication
, Journal Article
Field, M; Tarpey, PS; Smith, R; Edkins, S; O'Meara, S; Stevens, C; Tofts, C; Teague, J; Butler, A; Dicks, E; Barthorpe, S; Buck, G; Cole, J ...
Published in: Am J Hum Genet
August 2007
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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
August 2007
Volume
81
Issue
2
Start / End Page
367 / 374
Location
United States
Related Subject Headings
- Transcription Factors
- Sequence Alignment
- Pedigree
- Mutation
- Mental Retardation, X-Linked
- Male
- Humans
- Head
- Genetics & Heredity
- Abnormalities, Multiple
Citation
APA
Chicago
ICMJE
MLA
NLM
Field, M., Tarpey, P. S., Smith, R., Edkins, S., O’Meara, S., Stevens, C., … Raymond, F. L. (2007). Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet, 81(2), 367–374. https://doi.org/10.1086/520677
Field, Michael, Patrick S. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, et al. “Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.” Am J Hum Genet 81, no. 2 (August 2007): 367–74. https://doi.org/10.1086/520677.
Field M, Tarpey PS, Smith R, Edkins S, O’Meara S, Stevens C, et al. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet. 2007 Aug;81(2):367–74.
Field, Michael, et al. “Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.” Am J Hum Genet, vol. 81, no. 2, Aug. 2007, pp. 367–74. Pubmed, doi:10.1086/520677.
Field M, Tarpey PS, Smith R, Edkins S, O’Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL. Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am J Hum Genet. 2007 Aug;81(2):367–374.
Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
August 2007
Volume
81
Issue
2
Start / End Page
367 / 374
Location
United States
Related Subject Headings
- Transcription Factors
- Sequence Alignment
- Pedigree
- Mutation
- Mental Retardation, X-Linked
- Male
- Humans
- Head
- Genetics & Heredity
- Abnormalities, Multiple