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2011 Fiscal Year Final Research Report

Mechanisms of hearing loss caused by gene mutations encoding component proteins of tectorail membrane.

Research Project

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Project/Area Number 21592153
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

MOTEKI Hideaki  信州大学, 医学部, 助教 (60422698)

Project Period (FY) 2009 – 2011
Keywords内耳 / 遺伝子 / 感音難聴 / 細胞外マトリックス
Research Abstract

One of the causes of sensory neural hearing loss is affected with genetic mutations of encoding proteins of inner ear cochlear components. In this study, we examined the prevalence of genetic mutations and confirmed genotype phenotype correlation in congenital hearing loss patients. In our results, the mutation of TECTA gene encoding tectorial membrane protein may be a high incidence in autosomal dominant hearing loss. Mutation screening can diagnose the genetic cause of hearing loss with tectorial membrane defect.

  • Research Products

    (1 results)

All 2010

All Presentation (1 results)

  • [Presentation] TECTA遺伝子変異による難聴患者の遺伝子解析と臨床像「優性遺伝形式をとる遺伝性難聴に関する調査研究班」2010

    • Author(s)
      茂木英明、西尾信哉、橋本繁成、工穣、宇佐美真一
    • Organizer
      研究成果報告会
    • Place of Presentation
      東京
    • Year and Date
      2010-02-28

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Published: 2013-07-31  

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