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2016 Fiscal Year Final Research Report

Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients

Research Project

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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
Keywords遺伝子 / 耳科学 / 難聴 / Auditory neuropathy
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.

Free Research Field

耳鼻咽喉科学

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Published: 2018-03-22  

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