We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
- Authors
Rooms, Liesbeth; Reyniers, Edwin; Scheers, Stefaan; van Luijk, Rob; Wauters, Jan; Van Aerschot, Leen; Callaerts-Vegh, Zsuzsanna; D'Hooge, Rudi; Mengus, Gabrielle; Davidson, Irwin; Courtens, Winnie; Kooy, R. Frank
- Abstract
Monozygotic twin brothers with a subtelomeric 6q deletion presented with mental retardation, microcephaly, seizures, an enlarged cisterna magna, dimpling at elbows, a high arched palate and a thin upper lip. The same subtelomeric deletion was detected in the mother of the patients, presenting with a milder phenotype. We narrowed down the breakpoint to a region of approximately 100 kb and estimated the size of the terminal deletion to be 1.2 Mb. This region contains four known and seven putative genes. Comparison of the deletion with other reported patients showed TBP was the most plausible candidate gene for the mental retardation in this syndrome. We verified that the TBP gene expression was halved in our patients using real-time PCR. Cognitive and behavioural tests performed on previously described heterozygous tbp mice suggested that TBP is potentially involved in cognitive development.European Journal of Human Genetics (2006) 14, 1090–1096. doi:10.1038/sj.ejhg.5201674; published online 14 June 2006
- Subjects
INTELLECTUAL disabilities; PEOPLE with intellectual disabilities; GENE expression; GENETIC regulation; COGNITIVE development; HUMAN genetics
- Publication
European Journal of Human Genetics, 2006, Vol 14, Issue 10, p1090
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201674