1. TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
- Author
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Zsuzsanna Callaerts-Vegh, R. Frank Kooy, Irwin Davidson, Edwin Reyniers, Rob van Luijk, Winnie Courtens, Jan Wauters, Stefaan Scheers, Liesbeth Rooms, Rudi D'Hooge, Leen Van Aerschot, Gabrielle Mengus, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I, and Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
Male ,Candidate gene ,Microcephaly ,Monozygotic twin ,MESH: TATA-Box Binding Protein ,Anxiety ,Mice ,MESH: Mental Retardation ,MESH: Animals ,Genetics (clinical) ,Genetics ,0303 health sciences ,030305 genetics & heredity ,Subtelomere ,MESH: Memory Disorders ,Null allele ,Pedigree ,Chemistry ,Chromosomes, Human, Pair 6 ,Female ,MESH: Twins, Monozygotic ,Chromosome Deletion ,MESH: Abnormalities, Multiple ,MESH: Chromosomes, Human, Pair 6 ,Adolescent ,MESH: Pedigree ,MESH: Chromosome Deletion ,Biology ,03 medical and health sciences ,Gene mapping ,Intellectual Disability ,medicine ,Diseases in Twins ,Animals ,Humans ,Abnormalities, Multiple ,Gene ,MESH: Mice ,030304 developmental biology ,MESH: Adolescent ,Memory Disorders ,MESH: Humans ,MESH: Anxiety ,Breakpoint ,[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology ,Twins, Monozygotic ,medicine.disease ,TATA-Box Binding Protein ,MESH: Male ,Human medicine ,MESH: Diseases in Twins ,MESH: Female - Abstract
International audience; 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.
- Published
- 2006