Development of high throughput sequencing analysis based system for personalized medicine of deafness
| Project/Area Number |
15H02565
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Shinshu University |
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Principal Investigator |
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| 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)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥41,730,000 (Direct Cost: ¥32,100,000、Indirect Cost: ¥9,630,000)
Fiscal Year 2017: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000)
Fiscal Year 2016: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000)
Fiscal Year 2015: ¥17,810,000 (Direct Cost: ¥13,700,000、Indirect Cost: ¥4,110,000)
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| Keywords | 難聴 / 遺伝子 / 次世代シークエンサー / ゲノム / 遺伝性難聴 / 遺伝学 / 医療・福祉 / 内耳 |
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| 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).
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Report
(4 results)
Research Products
(95 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] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018
Author(s)
Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
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Journal Title
Acta Otolaryngol.
Volume: 1
Issue: 8
Pages: 708-712
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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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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[Journal Article] Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.2016
Author(s)
Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio S, Wakui K, Yamaguchi T, Kolbe DL, Iwasa Y, Shearer AE, Fukushima Y, Smith RJ, Usami S.
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Journal Title
Ann Otol Rhinol Laryngol
Volume: 125
Issue: 11
Pages: 918-923
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.2016
Author(s)
Ueyama T, Ninoyu Y, Nishio S, Miyoshi T, Torii H, Nishimura K, Sugahara K, Sakata H, Thumkeo D, Sakaguchi H, Watanabe N, Usami S, Saito N, Kitajiri S.
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Journal Title
EMBO Molecular Medicine
Volume: 8
Issue: 11
Pages: 1310-1324
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.2015
Author(s)
Sakuma N, Moteki H, Azaiez H, Booth KT, Takahashi M, Arai Y, Shearer AE, Sloan CM, Nishio SY, Kolbe DL, Iwasaki S, Oridate N, Smith RJ, Usami S.
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Journal Title
Ann Otol Rhinol Laryngol.
Volume: 124
Issue: 1_suppl
Pages: 184S-192S
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
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