An effective diagnostic strategy for deaf patients in Okinawa Islands using a next-generation sequencing and exome sequencing.
| Project/Area Number |
17K11337
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | University of Miyazaki (2018-2019)
University of the Ryukyus (2017) |
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Principal Investigator |
GANAHA AKIRA 宮崎大学, 医学部, 准教授 (00347155)
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| Co-Investigator(Kenkyū-buntansha) |
要 匡 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
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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 |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2019: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 難聴遺伝子 / 次世代シークエンス解析 / エクソーム解析 / 次世代シークエンサー / 沖縄 / 次世代シークエンス / ターゲットリシークエンス / 全エクソンシークエンス / 難聴 / 全エクソーム解析 |
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| Outline of Final Research Achievements |
Targeted resequencing for hearing loss was performed in forty-one families. Pathogenic substitutions in CCDC50, PTPQR, CDH23, DIAPH1, TEMPRESS3, KCNQ4, EYA4 and USH2A genes were identified in one family respectively. The substitution of MYO15A was identified in two families. Whole-exome sequencing was performed in fifteen families who were not identified in targeted resequencing. OTOG, CDC42, WFS1 and TANGO6 were identified in three, one, one and one family respectively. We published articles on the substitutions of DIAPH1 and OTOG gene. The patient with substitution of CDC42 was diagnosed as Takenouchi-Kosaki syndrome.
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| Academic Significance and Societal Importance of the Research Achievements |
我々が用いたターゲットリシークエンス解析は，現在の保険医療による先天性難聴難聴の遺伝子診断では診断できない新規変異による難聴の8家系を同定し，難聴の遺伝子診断において有用である事を確認した．ターゲットリシークエンスにおいて原因不明であった15家系中，2家系において難聴の原因遺伝子を2家系において難聴の原因が疑われる遺伝子を同定し，ターゲットリシークエンス解析後にエクソーム解析を行うことの有用性を確認した．
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Report
(4 results)
Research Products
(8 results)
