Development of genetic diagnosis for Japanese Retinitis Pigmentosa patients using next generation sequencer
| Project/Area Number |
26462659
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
山本 修一 千葉大学, 大学院医学研究院, 教授 (20230550)
寺崎 浩子 名古屋大学, 医学系研究科, 教授 (40207478)
細野 克博 浜松医科大学, 医学部, 助教 (60402260)
高橋 政代 国立研究開発法人理化学研究所, 多細胞システム形成研究センター, プロジェクトリーダー (80252443)
蓑島 伸生 浜松医科大学, 光尖端医学教育研究センター, 教授 (90181966)
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| Research Collaborator |
KURATA KENTARO
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 網膜色素変性 / 次世代シークエンサー / 遺伝子変異解析 / 遺伝性網膜変性 |
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| Outline of Final Research Achievements |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. This study was conducted to investigate genetic and clinical features in 2 unrelated Japanese RP patients. To identify causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined by targeted next-generation sequencing (NGS). Clinical analyses were based on ophthalmic examination, fundus photography, and electroretinography.
Clinical courses were similar in both patients. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although visual acuity was relatively preserved even into the fourth decade, visual field areas exhibited rapid deterioration in their mid-teens, and subsequent severe concentric constriction in the third decade. Mutation analysis revealed both patients’ conditions were due to PRPF31 mutations resulting in autosomal dominant RP. This study suggests that our targeted-NGS approach could be useful for genetic diagnosis for RP.
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Report
(4 results)
Research Products
(28 results)
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[Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2016
Author(s)
*Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N.
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Journal Title
J Hum Genet.
Volume: 61(9)
Issue: 9
Pages: 839-842
DOI
NAID
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.2014
Author(s)
Yang Zhao, Katsuhiro Hosono, Kimiko Suto, Chie Ishigami, Yuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, Yoshihiro Hotta.
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Journal Title
J Hum Genet.
Volume: 59
Issue: 9
Pages: 521-528
DOI
NAID
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Presentation] The first USH2A mutation analysis of Japanese Autosomal Recessive Retinitis Pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in Caucasian patients2014
Author(s)
Katsuhiro Hosono, Yang Zhao, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, and Yoshihiro Hotta
Organizer
XVIth International Symposium on Retinal Degeneration
Place of Presentation
California
Year and Date
2014-07-13 – 2014-07-18
Related Report
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