期刊
JOURNAL OF HUMAN GENETICS
卷 63, 期 5, 页码 673-676出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s10038-018-0421-3
关键词
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资金
- Research on Measures for Intractable Diseases
- Comprehensive Research on Disability Health and Welfare
- Strategic Research Program for Brain Science (SRPBS)
- Practical Research Project for Rare/Intractable Diseases
- Initiative on Rare and Undiagnosed Diseases in Pediatrics
- Initiative on Rare and Undiagnosed Diseases in Adults from the Japan Agency for Medical Research and Development
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Ministry of Health, Labor and Welfare
- Takeda Science Foundation
- Grants-in-Aid for Scientific Research [16H05357, 17K15630] Funding Source: KAKEN
SNAP25 is a core component of the soluble N-ethylmaleimide-sensitive factor attachment receptor complex, which plays a critical role in synaptic vesicle exocytosis. To date, six de novo SNAP25 mutations have been reported in patients with neurological features including seizures, intellectual disability, severe speech delay, and cerebellar ataxia. Here, we analyzed an Israeli family with two affected siblings showing seizures and cerebellar dysfunction by whole-exome sequencing, and identified a novel missense SNAP25 mutation (c. 176G > C, p.Arg59Pro) inherited from their unaffected father. Two SNAP25 isoforms are known, SNAP25a and SNAP25b, which each contain a different exon 5. The c. 176G > C mutation found in this study was specific to SNAP25b, while five previously reported mutations were identified in exons common to both isoforms. Another was previously reported to be specific to SNAP25b. Comparing clinical features of reported patients with SNAP25 mutations, the current patients demonstrated apparently milder clinical features with normal intelligence, and no magnetic resonance imaging abnormality or facial dysmorphism. Our results expand the clinical spectrum of SNAP25 mutations.
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