Copy number variations in hearing loss

• Project/Area Number: 15K10747
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: MOTEKI Hideaki 信州大学, 学術研究院医学系(医学部附属病院), 講師 (60422698)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Project Status: Completed (Fiscal Year 2017)
• Budget Amount: ¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000); Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 難聴 / 遺伝子 / 次世代シークエンサー / アレイCGH / CNV / 遺伝子コピー数変化 / aCGH / コピー数多型 / 先天性難聴 / 耳科学 / ゲノム

Outline of Final Research Achievements

Recently, copy number variants (CNVs) have been recognized as a major cause of genetic hearing loss. We undertook CNV analysis of the deafness causing genes using Next-generation sequencing (NGS) dataset and custom array CGH. We used the NGS platform with a social health insurance-approved method, and then performed CNV calling using read-depth approach we developed. The CNV results were confirmed with customized array comparative genomic hybridization (array CGH). We identified CNVs of the STRC genetic region as an important cause of hearing loss. The present study indicated that a considerable number of deafness patients, particularly among mild-moderate ARHL patients, caused by CNVs in the STRC gene.

Research Products

• [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
• [Journal Article] Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization. (2016)
  • Author(s): Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
  • Journal Title: Ann Otol Rhinol Laryngol Volume: 125 Issue: 11 Pages: 918-923
  • DOI: 10.1177/0003489416661345
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population. (2015)
  • Author(s): Moteki H, Azaiez H, Booth KT, Shearer AE, Sloan CM, Kolbe DL, Nishio S, Hattori M, Usami S, Smith RJ.
  • Journal Title: Clin Genet. Volume: e-pub Issue: 4 Pages: 466-472
  • DOI: 10.1111/cge.12677
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Presentation] Copy Number Variants in the STRC Gene are a Common Cause of Moderate Hearing Loss in a Japanese Population (2018)
  • Author(s): Hideaki Moteki, Yoh Yokota, Shin-ya Nishio, Yomomi Yamaguchi, Keiko Wakui, Shin-ichi Usami
  • Organizer: ARO Annual midwinter meeting
  • Int'l Joint Research
• [Presentation] 先天性難聴の遺伝子診断における遺伝子コピー数変化（Copy Number Variation）同定の試み (2016)
  • Author(s): 茂木英明、宮川麻衣子、宇佐美真一
  • Organizer: 第117回日本耳鼻咽喉科学会
  • Place of Presentation: 名古屋国際会議場
  • Year and Date: 2016-05-18
• [Presentation] Copy Number Variants in the STRC Gene are a Common Cause of Genetic Hearing Loss in the Japanese Population. (2016)
  • Author(s): Moteki H, Shearer A, Azaiez H, Booth K, Sloan C, Kolbe D, Nishio S, Smith R, Usami S.
  • Organizer: ARO 39th MidWinter Metting
  • Place of Presentation: San Diego, California, USA
  • Year and Date: 2016-02-21
  • Int'l Joint Research
• [Presentation] 遺伝子コピー数変化（Copy Number Variation）による先天性感音難聴症例 (2015)
  • Author(s): 茂木英明、宇佐美真一
  • Organizer: 第116回日本耳鼻咽喉科学会総会
  • Place of Presentation: 東京国際フォーラム
  • Year and Date: 2015-05-21