Genotype-phenotype analysis and prevalence study of disease-causing mutations in the EYS gene among Japanese patients with retinitis pigmentosa
Project/Area Number |
23791975
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Ophthalmology
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Research Institution | Hamamatsu University School of Medicine |
Principal Investigator |
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Research Collaborator |
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)
|
Project Period (FY) |
2011 – 2012
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Project Status |
Completed (Fiscal Year 2012)
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Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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Keywords | 網膜色素変性 / 遺伝学 / 遺伝子変異 / 常染色体劣性遺伝 / 遺伝子変異解析 / 遺伝子診断 / EYS |
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 18 patients, second mutant allele could not be detected in 9 patients. Among these 7 mutations, 2 truncating mutations, c.4957_4958insA and c.8868C>A, weredetected in at least one mutated allele in 16% of Japanese arRP patients and may be the most frequent mutations causing RP in the Japanese populations.
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Report
(3 results)
Research Products
(24 results)
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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 Population.2012
Author(s)
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 M, Hotta Y.
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Journal Title
PLoS One
Volume: 7(2)
Issue: 2
Pages: e31036-e31036
DOI
Related Report
Peer Reviewed
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