Genetic background among cochlear implant patients

2017 Fiscal Year Final Research Report

• Project/Area Number: 26861365
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: Miyagawa Maiko 信州大学, 学術研究院医学系(医学部附属病院), 助教 (60467165)
• Research Collaborator: 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 – 2018-03-31
• Keywords: 人工内耳 / 遺伝性難聴 / Littlears

Outline of Final Research Achievements

The present study intended to clarify the genetic etiology of the CI/EAS patients and compared CI/EAS outcomes between each etiology. We performed comprehensive massively parallel sequencing analysis for previously reported deafness causative genes (63 genes) for CI/EAS patients and identified many novel gene mutations among these patients.
Patients with mutations in deafness genes predominantly expressed within inner ear, showed relatively good auditory performance after CI/EAS surgery. This result suggest that the identification of the genetic background will be useful information to predict the post-operative CI performance. Massively parallel sequencing analysis is a powerful tool to identify the causative deafness genes mutations in patients receiving cochlear implantation.

Free Research Field

耳鼻咽喉科学　遺伝学　耳科学