Sensorineural hearing loss caused by genomic alteration

• Project/Area Number: 18K09343
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• 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: ¥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。

Research Products

• [Journal Article] Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-Syndromic Hearing Loss (2021)
  • 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
  • Journal Title: Otology and Neurotology Volume: 14 Issue: 7 Pages: e866-e874
  • DOI: 10.1097/mao.0000000000003169
  • Peer Reviewed
• [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.
  • Journal Title: Sci Rep. Volume: 13 Issue: 1 Pages: 4408-4408
  • DOI: 10.1038/s41598-019-40586-7
  • NAID: 120006601523
  • Peer Reviewed / Open Access
• [Journal Article] Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss (2019)
  • Author(s): Sugiyama、Moteki、Kitajiri、Kitano、Nishio、Yamaguchi、Wakui、Abe、Ozaki、Motegi、Matsui、Teraoka、Kobayashi、Kosho、Usami
  • Journal Title: Genes Volume: 10 Issue: 9 Pages: 715-732
  • DOI: 10.3390/genes10090715
  • Peer Reviewed / Open Access
• [Journal Article] Comprehensive analysis of syndromic hearing loss patients in Japan (2019)
  • Author(s): Ideura Michie、Nishio Shin-ya、Sugahara Kazuma、他
  • Journal Title: Scientific Reports Volume: 9 Issue: 1 Pages: 11976-11976
  • DOI: 10.1038/s41598-019-47141-4
  • Peer Reviewed / Open Access
• [Journal Article] Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss (2018)
  • Author(s): Abe Satoko、Nishio Shin-ya、Yokota Yoh、Moteki Hideaki、Kumakawa Kozo、Usami Shin-ichi
  • Journal Title: Clinical Case Reports Volume: 6 Issue: 11 Pages: 2111-2116
  • DOI: 10.1002/ccr3.1800
  • Peer Reviewed / Open Access
• [Journal Article] Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq custom panel. (2018)
  • Author(s): Nishio SY, Moteki H, Usami SI.
  • Journal Title: Mol Genet Genomic Med. Volume: 1 Issue: 4 Pages: 678-686
  • DOI: 10.1002/mgg3.399
  • Peer Reviewed / Open Access
• [Presentation] X-linked deafness associated with large genomic deletions in POU3F4 gene (2018)
  • Author(s): 茂木英明
  • Organizer: 第63回日本人類遺伝学会