2016 Fiscal Year Final Research Report
Whole exome sequencing in moyamoya disease
| Project/Area Number |
26461549
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Yokohama City University |
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Principal Investigator |
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| Project Period (FY) |
2014-04-01 – 2017-03-31
|
| Keywords | もやもや病 / エキソーム解析 |
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| Outline of Final Research Achievements |
Moyamoya disease is a cerebrovascular disease characterized by progressive occlusion of the terminal portion of the carotid arteries and their branches, bilaterally. The p.R4810K variant in RNF213 gene is known to be associated with moyamoya disease, but it is assumed that there may be other genetic factors contributing its onset. We performed whole exome sequencing on 65 pedigrees with moyamoya disease, searching for the mutated gene in this cohort. Two patients had pathogenic mutation in genes associated with specific syndromes, in which moyamoya disease had not been known as their clinical symptom. We found that p.R4810K variant in RNF213 gene is significantly associated with not only moyamoya disease but also unilateral moyamoya disease, akin-moyamoya disease, and moyamoya-like disease in which different portion of carotid arteries are stenotic/occlusive.
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| Free Research Field |
遺伝学
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