Sensorineural hearing loss caused by genomic alteration

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K09343
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: Shinshu University
• Principal Investigator: Moteki Hideaki 信州大学, 医学部附属病院, 医員 (60422698)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: コピー数変化 / 難聴 / 遺伝子

Outline of Final Research Achievements

We intended to detect deafness-causing copy number variations (CNV) using massively parallel sequencing data. Confirmation of CNVs were carried out by a comparative genomic hybridization (array-CGH). We developed the CNV detection method, and also reported several hearing loss cases caused by CNVs in deafness-causing genes.

Free Research Field

耳鼻咽喉科

Academic Significance and Societal Importance of the Research Achievements

現在、「難聴の遺伝子解析」が保険診療で可能になっているが、このコピー数変化は検査方法に組み込まれていない。本研究の結果から、難聴の原因のひとつにコピー数変化が重要であることが示された。今後、保険診療でも行うことが可能になることが望まれる。