| Project/Area Number |
17K16944
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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 |
Otorhinolaryngology
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| Research Institution | Keio University |
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Principal Investigator |
Noguchi Masaru 慶應義塾大学, 医学部(信濃町), 共同研究員 (50626760)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2017: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 神経線維腫症2型 / NF2 / 次世代シーケンス / 神経線維腫瘍症２型 / 次世代シークエンス / neurofibromatosis type 2 / Neurofibromatosis type 2 / Merlin / VEGF |
|---|
| Outline of Final Research Achievements |
We evaluated whole-exome sequencing of NF2 gene of 11 japanese NF2 cases with next generation sequencing. DNA from patients with NF2 was obtained from peripheral blood leucocytes. In the 11 cases, 8 were pathogenic variants and 1 was likely pathogenic variant in the NF2 gene. 5 nonsense variants, 2 frameshift variants, 1 splice site variant, and 1 inframe deletion were discovered. 2 novel NF2 variants were identified in these cases. No large deletion or duplication was identified in our series by mulitiplex ligation-dependent probe amplification. Truncating variants were associated with earlier onset.
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| Academic Significance and Societal Importance of the Research Achievements |
欧米諸国から神経線維腫症2型においては遺伝的背景が臨床経過に影響するこが報告されていたが、今回日本人を対象として遺伝的背景と、臨床経過や新たな治療法との関連性について検討することができた。
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