| Project/Area Number |
17K16236
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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 | Tohoku University |
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Principal Investigator |
Abe Yu 東北大学, 大学病院, 助教 (00789787)
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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 |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 全前脳胞症 / holoprosencephaly / Binder症候群 / Holoprosencephaly / Binderoid cleft lip / Binderoid cleft |
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| Outline of Final Research Achievements |
By the end of the fiscal year of 2019, we identified 2 typical cases of HPE, 17 cases of Binderoid complete cleft lip / plate and suspected cases. Among them, We collected blood samples from the patients and their parents in 2 cases of HPE (1 case of ALOBAR, 1 case of SEMILOBAR) and 1 case of Binderoid complete cleft lip / plate among them. We confirmed that their karyotypes were normal by the G-staining method. Targeted NGS panel was performed to identify mutations in genes included in the major pathways involved in the development of HPE, and a frameshift mutation was identified in the SIX3 gene in 1 case of HPE.
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| Academic Significance and Societal Importance of the Research Achievements |
現在日本国内において全前脳胞症 (HPE)、Binder 症候群、および Binderoid complete cleft lip/plate について遺伝子解析を実施する体制は整っていない。本研究では典型的なHPE症例において既知の原因遺伝子であるSIX3が同定され、本研究での解析方法により速やかにHPEの遺伝学的診断が可能であることが示された。現在、さらに残りの17症例の解析を継続中である。本研究の結果は、これらの疾患における遺伝子型と表現型、環境要因の関連、およびHPE スペクトラムの広がりを分子遺伝学的に明らかにする足がかりとなるものである。
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