OTOF mutation screening in Japanese sensorineural hearing loss patients

2015 Fiscal Year Final Research Report

• Project/Area Number: 25861544
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: SUZUKI Hiroaki 信州大学, 学術研究院医学系(医学部附属病院), 助教 (00419368)
• Research Collaborator: IWASA Yohichirou 信州大学, 医学部, 助教 (10613002) ; NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166) ; USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 難聴 / 遺伝子 / OTOF

Outline of Final Research Achievements

Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing, and identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q).
The present study showed that OTOF mutations accounted for 3.2-7.3% of severe to profound ARNSHL patients in Japan.

Free Research Field

耳鼻咽喉科学