Genetic analysis and clinical features of auditory neuropathy spectrum disorder patients
| Project/Area Number |
26861364
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Otorhinolaryngology
|
|---|
| Research Institution | Shinshu University |
|---|
Principal Investigator |
|
|---|
| Co-Investigator(Renkei-kenkyūsha) |
USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166)
|
|---|
| Project Period (FY) |
2014-04-01 – 2017-03-31
|
| Project Status |
Completed (Fiscal Year 2016)
|
| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
|---|
| Keywords | 遺伝子 / 耳科学 / 難聴 / Auditory neuropathy / 先天性難聴 / ANSD / OTOF / 聴覚 / 内耳 |
|---|
| Outline of Final Research Achievements |
Auditory neuropathy spectrum disorder involves absence or severe abnormality of auditory brainstem response (ABR) but presence of otoacoustic emissions (OAE). However, it is not unclear that how much Japanese ANSD patients are associated with gene mutations and how much cochlear implants are beneficial for ANSD patients with gene mutations. The goal of this study was to reveal the gene mutation frequency in Japanese ANSD patients and to analyze the effectiveness of cochlear implants for ANSD patients. The present study showed that 76.0% of ANSD patients had at least one causative gene mutations. Majority of them were OTOF mutations (72.0%). ANSD patients with OTOF mutations developed their language ability as much as patients with sensorineural hearing loss.
|
Report
(4 results)
Research Products
(1 results)
