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.
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Acknowledgements
Work on the detection of subtelomeric rearrangements in Antwerp was supported by grants from the Marguerite-Marie Delacroix foundation and the Belgian National Fund for Scientific Research–Flanders (FWO). This research was performed in the framework of the Interuniversity Attraction Poles program P5/19 of the Belgian Federal Science Policy Office.
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Rooms, L., Reyniers, E., Scheers, S. et al. TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions. Eur J Hum Genet 14, 1090–1096 (2006). https://doi.org/10.1038/sj.ejhg.5201674
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DOI: https://doi.org/10.1038/sj.ejhg.5201674
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