OTOF mutation screening in Japanese sensorineural hearing loss patients

• 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
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000); Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 難聴 / 遺伝子 / OTOF / 聴覚医学 / 内耳 / 人工内耳 / オーディとリーニューロパチー / Auditory Neuropathy

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.

Research Products

• [Journal Article] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients (2013)
  • Author(s): Iwasa Y, Nishio S, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S.
  • Journal Title: BMC Med Genet Volume: 14 Issue: 1 Pages: 1-5
  • DOI: 10.1186/1471-2350-14-95
  • Peer Reviewed
• [Presentation] OTOF遺伝子変異によるAuditory neuropathy症例の臨床像と人工内耳の効果に関する検討 (2013)
  • Author(s): 岩佐陽一郎、吉村豪兼、工 穣、宇佐美真一
  • Organizer: 第8回 日本小児耳鼻咽喉科学会総会
  • Place of Presentation: 前橋
• [Presentation] OTOF mutation screening in Japanese severe to profound recessive hearing loss patients (2013)
  • Author(s): Iwasa Y, Suzuki H, Usami S
  • Organizer: 12th Taiwan-Japan Conference on Otolaryngology Head and Neck surgery
  • Place of Presentation: Taiwan University Hospital