Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort

• Project/Area Number: 25462633
• 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: NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166)
• Co-Investigator(Kenkyū-buntansha): NAITO Takehiko 信州大学, 医学部附属病院, 医員 (50467164)
• Co-Investigator(Renkei-kenkyūsha): USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000); Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 難聴 / 遺伝子 / KCNQ4 / 聴覚医学

Outline of Final Research Achievements

KCNQ4, a member of the voltage-gated potassium channel family, plays a role in potassium recycling in the inner ear, and its mutation caused autosomal dominant sensorineural hearing loss. In this study we analyzed large number of Japanese hearing loss patients and revealed mutation spectrum of KCNQ4 gene.

Research Products

• [Journal Article] Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan. (2015)
  • Author(s): Nishio SY, Usami S.
  • Journal Title: Ann Otol Rhinol Laryngol. Volume: 124 Issue: 1_suppl Pages: 49S-60S
  • DOI: 10.1177/0003489415575059
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes. (2015)
  • Author(s): Nishio SY, Hayashi Y, Watanabe M, Usami S.
  • Journal Title: Genet Test Mol Biomarkers. Volume: 19 Issue: 4 Pages: 209-217
  • DOI: 10.1089/gtmb.2014.0252
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation (2013)
  • Author(s): aito T, Nishio SY, Iwasa Y, Yano T,Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
  • Journal Title: PLoS One Volume: 8(5) Issue: 5 Pages: e63231-e63231
  • DOI: 10.1371/journal.pone.0063231
  • Peer Reviewed
• [Presentation] 特発性両側性感音難聴患者に対する遺伝学的検査～次世代シーケンサーを用いた検査～ (2015)
  • Author(s): 西尾信哉、宮川麻衣子、池園哲郎、石川浩太郎、岩崎聡、岡本牧人、小川郁、加我君孝、熊川孝三、小橋元、坂田英明、佐藤宏昭、佐野肇、曾根三千彦、高橋晴雄、武田英彦、東野哲也、内藤泰、中川尚志、西崎和則、野口佳裕、羽藤直人、原 晃、福田諭、松永達雄、山岨達也、宇佐美真一
  • Organizer: 第60回 日本聴覚医学会総会・学術講演会
  • Place of Presentation: 京王プラザホテル（東京都新宿区）
  • Year and Date: 2015-10-22
• [Presentation] 次世代シーケンサーを用いた日本人難聴患者1120例の網羅的遺伝子解析 (2015)
  • Author(s): 西尾信哉、宮川麻衣子、内藤武彦、岩佐陽一郎、市瀬彩、宇佐美真一
  • Organizer: 第25回日本耳科学会
  • Place of Presentation: 長崎ブリックホール（長崎県長崎市）
  • Year and Date: 2015-10-08
• [Presentation] 優性遺伝形式をとる遺伝性難聴76家系に対する遺伝学的解析 (2015)
  • Author(s): 岩佐陽一郎、西尾信哉、宇佐美真一
  • Organizer: 第25回日本耳科学会
  • Place of Presentation: 長崎ブリックホール（長崎県長崎市）
  • Year and Date: 2015-10-08
• [Presentation] 日本人難聴遺伝子変異データベースの構築と臨床応用 (2015)
  • Author(s): 西尾信哉、宇佐美真一
  • Organizer: NGS Field 4th Meeting
  • Place of Presentation: エポカルつくば（茨城県つくば市）
  • Year and Date: 2015-07-02
• [Presentation] Comprehensive genetic screening of hearing loss for efficient clinical molecular diagnosis. (2013)
  • Author(s): Nishio S, Naito T, Miyagawa M, Usami S.
  • Organizer: Life Technologies Asia Pacific Japan 2013 Genetic Analysis Summit
  • Place of Presentation: Bali
  • Invited
• [Presentation] Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort; genotype-phenotype correlations and a founder mutation. (2013)
  • Author(s): Naito T, Nishio S, Usami S
  • Organizer: 9th Molecular Biology of Hearing and Deafness Conference
  • Place of Presentation: Stanford University