Sensorineural hearing loss caused by genomic alteration
Project/Area Number |
18K09343
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Review Section |
Basic Section 56050:Otorhinolaryngology-related
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Research Institution | Shinshu University |
Principal Investigator |
Moteki Hideaki 信州大学, 医学部附属病院, 医員 (60422698)
|
Project Period (FY) |
2018-04-01 – 2021-03-31
|
Project Status |
Completed (Fiscal Year 2020)
|
Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
|
Keywords | コピー数変化 / 難聴 / 遺伝子 / ゲノム構造変化 / 遺伝子コピー数 / 次世代シークエンサー / CNV解析 |
Outline of Final Research Achievements |
We intended to detect deafness-causing copy number variations (CNV) using massively parallel sequencing data. Confirmation of CNVs were carried out by a comparative genomic hybridization (array-CGH). We developed the CNV detection method, and also reported several hearing loss cases caused by CNVs in deafness-causing genes.
|
Academic Significance and Societal Importance of the Research Achievements |
現在、「難聴の遺伝子解析」が保険診療で可能になっているが、このコピー数変化は検査方法に組み込まれていない。本研究の結果から、難聴の原因のひとつにコピー数変化が重要であることが示された。今後、保険診療でも行うことが可能になることが望まれる。
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Report
(4 results)
Research Products
(7 results)
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[Journal Article] Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-Syndromic Hearing Loss2021
Author(s)
Ishino T, Ogawa Y, Sonoyama T, Taruya T, Kono T, Hamamoto T, Ueda T, Takeno S, Moteki H, Nishio SY, Usami SI, Nagano Y, Yoshimura A, Yoshikawa K, Kato M, Ichimoto M, Watanabe R
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Journal Title
Otology and Neurotology
Volume: 14
Issue: 7
Pages: e866-e874
DOI
Related Report
Peer Reviewed
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[Journal Article] Frequency and clinical features of hearing loss caused by STRC deletions.2019
Author(s)
Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI.
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Journal Title
Sci Rep.
Volume: 13
Issue: 1
Pages: 4408-4408
DOI
NAID
Related Report
Peer Reviewed / Open Access
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