The development and clinical application of EYS gene mutation diagnosis in Japanese Retinitis pigmentosa patients
| Project/Area Number |
25861626
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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 |
Ophthalmology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
HOTTA Yoshihiro 浜松医科大学, 医学部, 教授 (90173608)
TAKAHASHI Masayo 浜松医科大学, 医学部, 教授 (80252443)
KONDO Mineo 三重大学, 医学部, 教授 (80303642)
YAMAMOTO Shuichi 千葉大学, 医学部, 教授 (20230550)
AZUMA Noriyuki 独立行政法人国立成育医療研究センター, 感覚器・形態外科部, 医長 (10159395)
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| Project Period (FY) |
2013-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 網膜色素変性 / EYS遺伝子 / 遺伝子診断 / 遺伝子変異解析 / EYS |
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| Outline of Final Research Achievements |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease with autosomal recessive (ar), autosomal dominant, or X-linked inheritance. We analyzed mutations of EYS and USH2A in Japanese arRP cases (total 100). The analysis of EYS for 100 RP patients elucidated 7 probable pathogenic mutations from 18 cases.
Our recent analysis of the EYS using MLPA method to assay the copy number of each exon elucidated a case with an exon deletion and another case with an exon duplication from 9 patients in which only one probable causative mutation had been detected. It is quite possible that more of copy number mutations latently exist in EYS and others of RP patients.
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Report
(3 results)
Research Products
(11 results)
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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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[Journal Article] Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene2014
Author(s)
Suto K, Hosono K, Takahashi M, Hirami Y, Arai Y, Nagase Y, Ueno S, Terasaki H, Minoshima S, Kondo M, Hotta Y.
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Journal Title
Ophthalmic Genet.
Volume: 35(1)
Issue: 1
Pages: 25-34
DOI
Related Report
Peer Reviewed
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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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