BRWD3
MIM.300553 Xq13
BRWD3 codes for a putative novel transcription factor.
Pathology
germline mutation in X-linked mental retardation with macrocephaly (XLMR with macrocephaly) (MRX93) (MIM.300659).
disruption of BRWD3 by a t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia (B-cell CLL)
- ARHGAP20 gene at 11q23 (encodes a protein predicted to be involved in the regulation of Rho family GTPases) and BRWD3 at Xq13
- The rearrangement of ARHGAP20 and BRWD3 did not result in fusion transcripts, but it disrupted both genes.
- Deletion of chromosome region 11q22-q23 defines a subgroup of patients with B-cell chronic lymphocytic leukemia (B-CLL) characterized by poor survival.
- The tumor-suppressor gene ATM in the consensus deletion region was found to be biallelically inactivated in about one third of B-CLL cases, in the majority of those who have this deletion, inactivation of the remaining ATM allele was not observed.
See also
X-linked mental retardation (MRXs)
BRWDs
References
Field, M.; Tarpey, P. S.; Smith, R.; Edkins, S.; O’Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; and 34 others : Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Am. J. Hum. Genet. 81: 367-374, 2007. PubMed ID : #17668385#
Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P. Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes. Genes Chromosomes Cancer. 2005 Feb;42(2):128-43. PMID: #15543602#