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Prevalence and clinical features of hearing loss patients with CDH23 mutations.

Research Project

Project/Area Number 21791607
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

WAGATSUMA Michio  信州大学, 医学部・附属病院, 特任研究員 (00419409)

Co-Investigator(Renkei-kenkyūsha) MIYAGAWA Maiko  信州大学, 医学部・附属病院, 医員 (60467165)
NISHIO Shin-ya  信州大学, 医学部, 助教 (70467166)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2009: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
Keywords感音難聴 / 内耳 / 遺伝性難聴 / CDH23 / 遺伝子 / スクリーニング / PCR / 家系調査
Research Abstract

CDH23 is likely to be an important cause for hearing loss patients but the prevalence of CDH23 mutation in Japanese hearing loss patient is not clear. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study and found 26 possible pathogenic mutations.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (5 results)

All 2012 2011 Other

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (1 results) Remarks (1 results)

  • [Journal Article] Patientswith CDH23 mutation and the 1555A> Gmitochondrial mutation are good candidates for electric acoustic stimulation(EAS)2012

    • Author(s)
      Usami S. Miyagawa M. Nishio S. Moteki H. Takumi Y. Suzuki M. Kitano Y. Iwasaki S
    • Journal Title

      Acta Otolaryngol

      Volume: 132巻 Pages: 377-384

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] 人工内耳埋め込み術を行ったCDH23遺伝子変異による難聴症例2012

    • Author(s)
      宮川麻衣子、茂木英明、工穣、宇佐美真一
    • Journal Title

      耳喉頭頸

      Volume: 84巻 Pages: 59-63

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Patients with CDH23 mutation and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)2012

    • Author(s)
      Usami S., Miyagawa M., Nishio S., Moteki H., Takumi Y., Suzuki M., Kitano Y., Iwasaki S.
    • Journal Title

      Acta Otolaryngol

      Volume: 132 Issue: 4 Pages: 377-384

    • DOI

      10.3109/00016489.2011.649493

    • NAID

      120007110630

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] 先進医療「先天性難聴の遺伝子診断」の現状2011

    • Author(s)
      工穣、岩佐陽一郎、吉村豪兼、矢野卓也、内藤武彦、宮川麻衣子、茂木英明、西尾信哉、宇佐美真一
    • Organizer
      第56回日本聴覚医学会総会・学術講演会
    • Place of Presentation
      福岡
    • Year and Date
      2011-10-27
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Remarks]

    • URL

      http://www.shinshu-u.ac.jp/faculty/medicine/chair/ent/

    • Related Report
      2009 Annual Research Report

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Published: 2009-04-01   Modified: 2016-04-21  

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