Investigation of comprehensive etiology of microcephaly with pontocerebellar hypoplasia (MICPCH)
Project/Area Number |
25830135
|
Research Category |
Grant-in-Aid for Young Scientists (B)
|
Allocation Type | Multi-year Fund |
Research Field |
Medical genome science
|
Research Institution | Tokyo Medical and Dental University |
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)
|
Project Period (FY) |
2013-04-01 – 2015-03-31
|
Project Status |
Completed (Fiscal Year 2014)
|
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)
|
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 |
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.
|
Report
(3 results)
Research Products
(9 results)
-
-
-
[Journal Article] Genetic Variants in C5 and Poor Response to Eculizumab in PNH.2013
Author(s)
Nishimura J, Yamamoto M, Hayashi S, Ohyashiki K, Ando K, Brodsky AL, Noji H, Kitamura K, Eto T, Takahashi T, Masuko M, Matsumoto T, Wano Y, Shichishima T, Shibayama H, Hase M, Li L, Johnson K, Lazarowski A, Tamburini P, Inazawa J, Kinoshita T, Kanakura Y.
-
Journal Title
N Eng J Med.
Volume: 370
Pages: 632-639
DOI
Related Report
Peer Reviewed
-
-
-
-
-
-