Copy number variations in hearing loss

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K10747
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: MOTEKI Hideaki 信州大学, 学術研究院医学系(医学部附属病院), 講師 (60422698)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 難聴 / 遺伝子 / 次世代シークエンサー / アレイCGH / CNV

Outline of Final Research Achievements

Recently, copy number variants (CNVs) have been recognized as a major cause of genetic hearing loss. We undertook CNV analysis of the deafness causing genes using Next-generation sequencing (NGS) dataset and custom array CGH. We used the NGS platform with a social health insurance-approved method, and then performed CNV calling using read-depth approach we developed. The CNV results were confirmed with customized array comparative genomic hybridization (array CGH). We identified CNVs of the STRC genetic region as an important cause of hearing loss. The present study indicated that a considerable number of deafness patients, particularly among mild-moderate ARHL patients, caused by CNVs in the STRC gene.

Free Research Field

耳鼻咽喉科