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TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions
- Source :
- European Journal of Human Genetics, European Journal of Human Genetics, Nature Publishing Group, 2006, 14 (10), pp.1090-6. ⟨10.1038/sj.ejhg.5201674⟩, European journal of human genetics
- Publication Year :
- 2006
-
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.
- 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
Subjects
Details
- ISSN :
- 10184813 and 14765438
- Volume :
- 14
- Issue :
- 10
- Database :
- OpenAIRE
- Journal :
- European journal of human genetics : EJHG
- Accession number :
- edsair.doi.dedup.....3f1ad36de7b78f899e6d791792151739