Genetic background among cochlear implant patients
| Project/Area Number |
26861365
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Shinshu University |
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Principal Investigator |
Miyagawa Maiko 信州大学, 学術研究院医学系(医学部附属病院), 助教 (60467165)
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| Research Collaborator |
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)
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| Project Period (FY) |
2014-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
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: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 人工内耳 / 遺伝性難聴 / Littlears / 遺伝子 / 難聴 / 次世代シークエンサー / ゲノム / 聴覚医学 |
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| Outline of Final Research Achievements |
The present study intended to clarify the genetic etiology of the CI/EAS patients and compared CI/EAS outcomes between each etiology. We performed comprehensive massively parallel sequencing analysis for previously reported deafness causative genes (63 genes) for CI/EAS patients and identified many novel gene mutations among these patients.
Patients with mutations in deafness genes predominantly expressed within inner ear, showed relatively good auditory performance after CI/EAS surgery. This result suggest that the identification of the genetic background will be useful information to predict the post-operative CI performance. Massively parallel sequencing analysis is a powerful tool to identify the causative deafness genes mutations in patients receiving cochlear implantation.
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Report
(5 results)
Research Products
(42 results)
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[Journal Article] WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.2018
Author(s)
Kobayashi M, Miyagawa M, Nishio SY, Moteki H, Fujikawa T, Ohyama K, Sakaguchi H, Miyanohara I, Sugaya A, Naito Y, Morita SY, Kanda Y, Takahashi M, Ishikawa K, Nagano Y, Tono T, Oshikawa C, Kihara C, Takahashi H, Noguchi Y, Usami SI.
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Journal Title
PLoS One.
Volume: 12
Issue: 3
Pages: e0193359-e0193359
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.2017
Author(s)
Kitano T, Miyagawa M, Nishio SY, Moteki H, Oda K, Ohyama K, Miyazaki H, Hidaka H, Nakamura KI, Murata T, Matsuoka R, Ohta Y, Nishiyama N, Kumakawa K, Furutate S, Iwasaki S, Yamada T, Ohta Y, Uehara N, Noguchi Y, Usami SI.
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Journal Title
PLoS One.
Volume: 12
Issue: 5
Pages: e0177636-e0177636
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Presentation] 保険収載後の難聴遺伝子診断の現況2014
Author(s)
宮川麻衣子、西尾信哉、宇佐美真一
Organizer
第9回日本小児耳鼻咽喉科学会
Place of Presentation
アクトシティ浜松・浜松市・静岡県
Year and Date
2014-06-06 – 2014-06-07
Related Report
