Title: TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
Authors: Rooms, L ×
Reyniers, E
Scheers, Z
van Luijk, R
Wauters, J
Van Aerschot, L
Callaerts-Vegh, Zsuzsanna
D'Hooge, Rudi
Mengus, G
Davidson, I
Courtens, W
Kooy, R.F #
Issue Date: 2006
Publisher: Karger
Series Title: European Journal of Human Genetics vol:14 pages:1090-1096
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.
Description: 01
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Biological Psychology
× corresponding author
# (joint) last author

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