title: TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Rooms
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Stefaan
authors.initials: S
authors.lastname: Scheers
authors.forename: Rob
authors.initials: R
authors.lastname: van Luijk
authors.forename: Jan
authors.initials: J
authors.lastname: Wauters
authors.forename: Leen
authors.initials: L
authors.lastname: Van Aerschot
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Callaerts-Vegh
authors.forename: Rudi
authors.initials: R
authors.lastname: D'Hooge
authors.forename: Gabrielle
authors.initials: G
authors.lastname: Mengus
authors.forename: Irwin
authors.initials: I
authors.lastname: Davidson
authors.forename: Winnie
authors.initials: W
authors.lastname: Courtens
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000818:Animals; D001007:Anxiety / Q000235:genetics; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008569:Memory Disorders / Q000235:genetics; D051379:Mice; D010375:Pedigree; D035181:TATA-Box Binding Protein / Q000235:genetics*; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D035181:TATA-Box Binding Protein