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Analysis of causative genes for mid-frequency hearing loss using next-generation sequencing

Research Project

Project/Area Number 17H07404
Research Category

Grant-in-Aid for Research Activity Start-up

Allocation TypeSingle-year Grants
Research Field Otorhinolaryngology
Research Institution独立行政法人国立病院機構(東京医療センター臨床研究センター)

Principal Investigator

YAMAMOTO Nobuko  独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 研究員 (90626897)

Research Collaborator MUTAI Hideki  
NARA Kiyomitsu  
HIROYASU Fumiko  
Project Period (FY) 2017-08-25 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords谷型難聴 / MYO6 / POU4F3 / TECTA / 次世代シーケンサー / 遺伝性難聴 / MFSNHL / 遺伝子
Outline of Final Research Achievements

In 95 families with non-syndromic bilateral mid-frequency sensorineural hearing loss, pathogenic or likely pathogenic variants were identified in 23 families, variants of unknown significance (VUS) were found in 38 families, and genetic causes were unknown in 34 families. Among 23 families for which a pathogenic variants was identified, MYO6 was causative gene in 6 families (26.1%) and POU4F3 was causative in 3 families (13.0%). In terms of 61 families including VUS, MYO6 variants were found in 12 families (19.7%) followed by TECTA in 7 families (11.5%). TECTA variants often can not be determined as pathogenic by only one family because obtaining accurate family history is difficult and most of TECTA variants with autosomal dominant inheritance are missense variants. For the future, data accumulation may change some VUS to pathogenic variants, which may increase the TECTA gene rate among mid-frequency hearing loss.

Academic Significance and Societal Importance of the Research Achievements

谷型難聴の原因遺伝子の変異スペクトラムと臨床像に関する検討はこれまでになく、初めて解明された。臨床では、遺伝カウンセリングに大変有用であり、治療法選択や進行性など予後の説明の際にも有用な情報である。さらに、谷型難聴における高頻度の原因遺伝子の発現機序を比較検討することで、谷型難聴の病態解明にもつなげられる可能性があり、有意義な結果である。

Report

(3 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Annual Research Report
  • Research Products

    (5 results)

All 2019 2017

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (3 results)

  • [Journal Article] 東京医療センターにおける成人人工内耳症例の適応と有用性の検討2019

    • Author(s)
      山本修子、南修司郎、榎本千江子、加藤秀敏、松永達雄、伊藤文展、遠藤理奈子、橋本陽介、石川直明、加我君孝
    • Journal Title

      日本耳鼻咽喉科学会会報

      Volume: 122

    • NAID

      130007703168

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.2017

    • Author(s)
      Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T.
    • Journal Title

      Orphanet J Rare Dis

      Volume: 25;12(1) Issue: 1 Pages: 157-157

    • DOI

      10.1186/s13023-017-0708-z

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 谷型難聴におけるTECTA変異の頻度とその特徴2017

    • Author(s)
      山本修子、西康行、増田佐和子、仲野敦子、森田訓子、藤岡正人、加我君孝、小川郁、松永達雄
    • Organizer
      第118回日本耳鼻咽喉科学会通常総会・学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] TECTA変異による谷型難聴症例の遺伝学的・臨床的検討2017

    • Author(s)
      山本修子、森田訓子、益田慎、西康行、仲野敦子、増田佐和子、藤岡正人、加我君孝、小川郁、松永達雄
    • Organizer
      第62回日本聴覚医学会総会・学術講演会
    • Related Report
      2017 Annual Research Report
  • [Presentation] TECTA蛋白の構造解析による新規変異の分子病態予測2017

    • Author(s)
      山本修子、難波一徳、務台英樹、森田訓子、松永達雄
    • Organizer
      第27回日本耳科学会総会・学術講演会
    • Related Report
      2017 Annual Research Report

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Published: 2017-08-25   Modified: 2020-03-30  

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