TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.

Liesbeth Rooms , Edwin Reyniers , Stefaan Scheers , Rob van Luijk , Jan Wauters , Leen van Aerschot , Zsuzsanna Callaerts-Vegh , Rudi d'Hooge , Gabrielle Mengus (1) , Irwin Davidson (1) , Winnie Courtens , R Frank Kooy

1 IGBMC - Institut de génétique et biologie moléculaire et cellulaire

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.

Domaines: Biologie moléculaire

Liesbeth Rooms, Edwin Reyniers, Stefaan Scheers, Rob van Luijk, Jan Wauters, et al.. TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions.. European Journal of Human Genetics, 2006, 14 (10), pp.1090-6. ⟨10.1038/sj.ejhg.5201674⟩. ⟨hal-00188128⟩