Development of high throughput sequencing analysis based system for personalized medicine of deafness

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H02565
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: Usami Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
• Co-Investigator(Kenkyū-buntansha): 茂木 英明 信州大学, 医学部, 助教 (60422698) ; 西尾 信哉 信州大学, 学術研究院医学系, 助教 (70467166)
• 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

Outline of Final Research Achievements

Hearing loss is one of the most common congenital or early onset sensory disorders, appearing in one out of 700 to 1000 newborns, with 50% to 70% of cases attributable to genetic causes. Inherited hearing loss demonstrates great heterogeneity and approximately one hundred genes are estimated to be involved. In this study, we performed massively parallel DNA sequencing (MPS) analysis for the gene mutations of the previously reported deafness causing genes among a larger series of 500 unrelated Japanese hereditary hearing loss patients. As a result, we obtained the mutation spectrum and frequency of Japanese hearing loss patients and we also clarified clinical feature of each gene mutation case. In addition, we also identified the relatively rare causative gene mutations and its detailed clinical characteristics (Iwasa et al., 2016, Kitano et al., 2017, Kobayashi et al., 2018).

Free Research Field

耳鼻咽喉科学　耳科学