Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome |
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Authors: | Patel Chirag Cooper-Charles Lisa McMullan Dominic J Walker Judith M Davison Val Morton Jenny |
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Affiliation: | Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK. Chirag.Patel@bwhct.nhs.uk |
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Abstract: | 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. |
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Keywords: | Tourette syndrome IMMP2L 7q31.1 region array CGH FOXP2 breakpoint mapping |
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