2014 Fiscal Year Final Research Report
Identification of the candidate gene for PFAPA syndrome
| Project/Area Number |
25860874
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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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) |
2013-04-01 – 2015-03-31
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| Keywords | 全エクソーム解析 / 小児周期発熱 |
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| Outline of Final Research Achievements |
We performed whole exome analysis for 45 samples of 12 families with PFAPA. Firstly, we searched the mutations in 6 known candidate genes(MEFV, MVK, TNFRS1A, LPIN2, NOD2, ELANE) for hereditary autoinflammatory syndromes, but we coud not detect any pathogenic mutations in these genes. Narrowing down the candidate variants in each family, we detected 26-98 candidate variants in the families with autosomal dominant inheritance model and 1-3 candidate variants in the sporadic families. We then searched the candidate genes whose variants were found in two or more families. However, we could not find any common genes having pathologcal mutations.
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| Free Research Field |
遺伝学
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