| Project/Area Number |
25830135
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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 |
Medical genome science
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
HAYASHI Shin 東京医科歯科大学, 硬組織疾患ゲノムセンター, 特任講師 (50596244)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | CASK / MICPCH / 小頭症 / 小脳脳幹部低形成 / 疾患関連遺伝子 / 疾患コホート / 次世代シークエンサー / 先天異常疾患 |
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| Outline of Final Research Achievements |
In order to investigate an etiology of microcephaly with pontocerebellar hypoplasia (MICPCH) we analyzed mutation of CASK, which is a major causative gene of MICPCH, and investigated novel causative gene using next-generation sequencer for a cohort of 40 patients with typical MICPCH. Besides haploinsufficiency of CASK in 28 patients, we identified mutation of ITPR1 as a known causative gene, and RELN, Genes A and B as a candidate causative gene. Moreover we identified Gene B was corresponding to neural differentiation and Gene A potentially activated an expression of Gene B through a suppression of expression of Gene A and/or Gene B on cell-line from neuroblastoma, suggesting that haploinsufficiency of both genes could cause MICPCH.
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