| Project/Area Number |
15K20253
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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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| Research Collaborator |
HOTTA YOSHIHIRO 浜松医科大学, 医学部, 教授 (90173608)
HOSONO KATSUHIRO 浜松医科大学, 医学部, 助教 (60402260)
KURATA KENTARO 浜松医科大学, 医学部, 大学院生
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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 |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
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| Keywords | 先天緑内障 / 先天白内障 / 早発型発達緑内障 / 遺伝子変異探索 / 遺伝性眼疾患 / 生体計測 |
|---|
| Outline of Final Research Achievements |
We report a case of 6p25 deletion syndrome, one of subtelophrome microstructural abnormality, which is early-onset developmental glaucoma with right eye aniridia and left eye Peters anomaly.
Case was 0-year old girl. Cornea opacity of both eyes was observed, suspected of early onset developing glaucoma. Familial history of glaucoma was not recognized. In order to identify disease-causing genes, mutation analysis by the Sanger method was performed on all 13 exons of the PAX6 gene, but the mutation could not be identified. Furthermore, we performed whole exome sequencing. Exome data suggested that a patient had a de novo deletion mutation in the 6p25 region containing the FOXC1 gene.
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