Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome
| العنوان: | Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome |
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| المؤلفون: | Dominic J. McMullan, Jenny Elizabeth Morton, Chirag Patel, Judith M. Walker, Lisa Cooper-Charles, Val Davison |
| المصدر: | European Journal of Human Genetics. 19:634-639 |
| بيانات النشر: | Springer Science and Business Media LLC, 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Male, Candidate gene, Tics, Apraxias, Cystic Fibrosis Transmembrane Conductance Regulator, Translocation Breakpoint, Biology, Tourette syndrome, Article, Translocation, Genetic, Chromosome Breakpoints, Exon, Gene mapping, Endopeptidases, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, Comparative Genomic Hybridization, Breakpoint, Forkhead Transcription Factors, FOXP2, DNA, Exons, medicine.disease, Pedigree, Chromosomes, Human, Pair 7, Tourette Syndrome |
| الوصف: | Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1-3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1-7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene. |
| تدمد: | 1476-5438 1018-4813 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd52f5af9826a5f282229c011e8a9c7eTest https://doi.org/10.1038/ejhg.2010.238Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....dd52f5af9826a5f282229c011e8a9c7e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14765438 10184813 |
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