2013 Fiscal Year Final Research Report
Genetic Diagnosis System for Retinitis Pigmentosa Patients: Large-scale collection and mutation analyses of Japanese RP patients
| Project/Area Number |
23592561
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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) |
TAKAHASHI Masayo 独立行政法人理化学研究所, 発生・再生科学総合研究センター網膜再生医療研究チーム, チームリーダー (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)
MINOSHIMA Shinsei 浜松医科大学, メディカルフォトニクス研究センター, 教授 (90181966)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 網膜色素変性 / 遺伝子診断 / 常染色体劣性 / 変異解析 / EYS / USH2A |
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| Research Abstract |
Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease including autosomal recessive (ar), autosomal dominant (ad), and X-linked inheritance. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese arRP patients. We detected 7 very likely pathogenic mutations in 18 patients. Of these 100 patients, 82 were included in the next study after 18 RP patients with very likely pathogenic EYS mutations were excluded. The mutation analysis of the USH2A revealed 5 very likely pathogenic mutations in 4 patients. Based on these data, if both EYS and USH2A genes are analyzed among Japanese arRP patients, gene defects could be detected in 22% of the patients in total (18% and 4%, respectively). We believe that screening for these 2 genes is effective for genetic testing and counseling of RP patients in Japan.
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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)
Pages: 25-34
DOI
Peer Reviewed
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[Journal Article] Developing rods transplanted into the degenerating retina of Crx-knockout mice exhibit neural activity similar to native photoreceptors2013
Author(s)
Homma K, Okamoto S, Mandai M, Gotoh N, Rajasimha HK, Chang YS, Chen S, Li W, Cogliati T, Swaroop A, Takahashi M
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Journal Title
Stem Cells
Volume: 31(6)
Pages: 1149-1159
DOI
Peer Reviewed
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[Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population2012
Author(s)
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y
Volume
7(2)
Pages
e31036
DOI
Peer Reviewed
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[Journal Article] Identification of autoantibodies against TRPM1 in patients with paraneoplastic retinopathy associated with ON bipolar cell dysfunction2011
Author(s)
Kondo M, Sanuki R, Ueno S, Nishizawa Y, Hashimoto N, Ohguro H, Yamamoto S, Machida S, Terasaki H, Adamus G, Furukawa T
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Journal Title
PLoS One
Volume: 6(5)
Pages: e19911
DOI
Peer Reviewed
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[Presentation] Mutation Analaysis in EYS (Eyes Shut Homolog) gene among Japanase and Korean Patients with Autosomal Recessive Retinitis Pigmentosa2012
Author(s)
Hotta Y, Hosono K, Ishigami C, Takahashi M, Park DH, Ueno S, Terasaki H, Shin JP, Kim IT, Kondo M, Minoshima S
Organizer
The 12^<th> Kyungpook-Hamamatsu Joint Medical Symposium
Place of Presentation
Hamamatsu
Year and Date
20120000
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[Remarks] 新聞、雑誌等による報道 日本人の網膜色素変性症原因遺伝子を発見 日本経済新聞 平成24年2月2日
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[Remarks] 目の難病、原因遺伝子特定 日本人患者に高 頻度で異常 共同通信 平成24年2月2日
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[Remarks] 目の難病原因遺伝子を特定 中日新聞 平 成24年2月2日
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[Remarks] 日本人に高頻度、目の難病 浜医大が遺伝子 特定 静岡新聞 平成24年2月2日
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[Remarks] 国立成育医療研究センターと浜松医大、日本 人で高頻度で網膜色素変性を起こす原因遺 伝子を発見、PLoS ONE誌で発表日経バイオテクONLINE平成24年2月18日
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[Remarks] 科学網膜色素変性症 日本人に多い遺伝 子異常判明 朝日新聞 平成24年2月23日
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