• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients

Research Project

Project/Area Number 26861364
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Otorhinolaryngology
Research InstitutionShinshu University

Principal Investigator

IWASA Yoh-ishiro  信州大学, 医学部, 助教(特定雇用) (10613002)

Co-Investigator(Renkei-kenkyūsha) USAMI Shin-ichi  信州大学, 学術研究院医学系, 教授 (10184996)
NISHIO Shin-ya  信州大学, 学術研究院医学系, 助教 (70467166)
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords遺伝子 / 耳科学 / 難聴 / Auditory neuropathy / 先天性難聴 / ANSD / OTOF / 聴覚 / 内耳
Outline of Final Research Achievements

Auditory neuropathy spectrum disorder involves absence or severe abnormality of auditory brainstem response (ABR) but presence of otoacoustic emissions (OAE). However, it is not unclear that how much Japanese ANSD patients are associated with gene mutations and how much cochlear implants are beneficial for ANSD patients with gene mutations. The goal of this study was to reveal the gene mutation frequency in Japanese ANSD patients and to analyze the effectiveness of cochlear implants for ANSD patients. The present study showed that 76.0% of ANSD patients had at least one causative gene mutations. Majority of them were OTOF mutations (72.0%). ANSD patients with OTOF mutations developed their language ability as much as patients with sensorineural hearing loss.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (1 results)

All 2016

All Presentation (1 results)

  • [Presentation] 当科データベースにおける次世代シーケンサーを用いたOTOF遺伝子の変異解析2016

    • Author(s)
      岩佐陽一郎、西尾信哉、宇佐美真一
    • Organizer
      第26回日本耳科学会
    • Place of Presentation
      長野市ホテル国際21
    • Year and Date
      2016-10-05
    • Related Report
      2016 Annual Research Report

URL: 

Published: 2014-04-04   Modified: 2018-03-22  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi