ArticleEuropean journal of human genetics : EJHG2011
Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Genetic associations for keratoconus: a systematic review and meta-analysis.Scientific reports · 2017Pooled it
- Human mitochondrial peroxiredoxin Prdx3 is dually localized in the intermembrane space and matrix subcompartments.Redox biology · 2024Article
- Antioxidant Behavioural Phenotype in theGenes · 2023Article
- Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice.Current medical science · 2023Article
- Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023Article
- Identification of candidate genes associated with bacterial and viral infections in wild boars hunted in Tuscany (Italy).Scientific reports · 2022Article
- Current understanding of the genetics of tourette syndrome.Biomedical journal · 2022Review
- Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Genes · 2021Review
- The Potential Role of miRNAs as Predictive Biomarkers in Neurodevelopmental Disorders.Journal of molecular neuroscience : MN · 2021Review
- A Comprehensive Review of Tic Disorders in Children.Journal of clinical medicine · 2021Review
- Recent progress on Tourette syndrome.Faculty reviews · 2021Review
- Association of Genetic Variation in the 3'UTR of LHX6, IMMP2L, and AADAC With Tourette Syndrome.Frontiers in neurology · 2020Article
- Tourette Syndrome Risk Genes Regulate Mitochondrial Dynamics, Structure, and Function.Frontiers in psychiatry · 2020Article
- Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without IntragenicFrontiers in neurology · 2020Article
- Progress in Genetic Studies of Tourette's Syndrome.Brain sciences · 2017Review
- Proteolytic cleavage by the inner membrane peptidase (IMP) complex or Oct1 peptidase controls the localization of the yeast peroxiredoxin Prx1 to distinct mitochondrial compartments.The Journal of biological chemistry · 2017Article
- Suppression of Inner Mitochondrial Membrane Peptidase 2-Like (IMMP2L) Gene Exacerbates Hypoxia-Induced Neural Death Under High Glucose Condition.Neurochemical research · 2017Article
- A Review and Update on Tourette Syndrome: Where Is the Field Headed?Current neurology and neuroscience reports · 2016Review
- Investigation of SNP rs2060546 Immediately Upstream toFrontiers in neuroscience · 2016Article
- The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.Frontiers in neuroscience · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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