期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 22, 期 11, 页码 1283-1289出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2014.24
关键词
ADHD; IMMP2L; intronic deletions; OCD; susceptibility gene; Tourette syndrome
资金
- Danish Institutional Review Board [H-KA-05118]
- Lundbeck Foundation [R24-A2419]
- University of Copenhagen
- Lundbeck Foundation [R100-2011-9332, R24-2008-2419, R155-2013-16337] Funding Source: researchfish
burette syndrome is a neurodevelopmental disorder characterized by multiple motor and vocal tics, and the, disorder is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology, but the underlying environmental and genetic factors are largely unknown. IMMP2L (inner mitochondrial membrane peptidase, subunit 2) located on chromosome 7q31 is one of the genes suggested as a susceptibility factor in disease pathogenesis. Through screening of a Danish cohort comprising 188 unrelated Tourette syndrome patients for copy number variations, we identified seven patients with intragenic IMMP2L deletions (3.7%), and this frequency was significantly higher (P = 0.0447) compared with a Danish control cohort (0.9%). Four of the seven deletions identified did not include any known exons of IMMP2L, but were within intron 3. These deletions were found to affect a shorter IMMP2L mRNA species with two alternative 5'-exons (one including the ATG start codon). We showed that both transcripts (long and short) were expressed in several brain regions, with a particularly high expression in cerebellum and hippocampus. The current findings give further evidence for the role of IMMP2L as a susceptibility factor in burette syndrome and suggest that intronic changes in disease susceptibility genes should be investigated further for presence of alternatively spliced exons.
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