Identification of novel causative gene of auditory neuropathy spectrum disorder

2022 Fiscal Year Final Research Report

• Project/Area Number: 19K09865
• 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: International University of Health and Welfare (2022); Shinshu University (2019-2021)
• Principal Investigator: Noguchi Yoshihiro 国際医療福祉大学, 医学部, 教授 (50282752)
• Co-Investigator(Kenkyū-buntansha): 宇佐美 真一 信州大学, 医学部, 特任教授 (10184996) ; 西尾 信哉 信州大学, 医学部, 特任講師 (70467166)
• Project Period (FY): 2019-04-01 – 2023-03-31
• Keywords: 遺伝子 / 難聴 / ANSD / 内耳奇形

Outline of Final Research Achievements

One in 1000 infants are born with congenital hearing loss. The etiology is hereditary hearing loss in a half of the infants with congenital hearing loss. The genetic analysis of hearing loss is useful in definite diagnosis as well as prediction of cochlear implant efficacy. In the present study, genetic analysis was performed in a family with autosomal dominant auditory neuropathy spectrum disorder and another family with autosomal dominant late-onset sensorineural hearing loss. Novel causative gene was not able to be found in the former family, whereas a pathogenic variant in TNC was detected in the latter family. Cochlear implant was effective in patients with TNC variant.

Free Research Field

耳鼻咽喉科学

Academic Significance and Societal Importance of the Research Achievements

本邦では、2012年4月より「先天性難聴」の遺伝子診断が保険収載されている。しかし、非症候群性遺伝性難聴においても現時点で120以上の原因遺伝子が同定されており、保険での検査で原因が同定されない遺伝性難聴も多数存在する。難聴の遺伝子解析は、分子病態評価、指定難聴の診断とともに人工内耳の予後予測に有用である。今回、優性遺伝性難聴の1家系にTNCバリアントを同定し、人工内耳効果が良好であることを明らかにした。希少な難聴の原因遺伝子においても病態や治療効果を評価することが、社会的に有用と考えられる。