2009 Fiscal Year Final Research Report
Mutation analysis among Japanese patients with Usher syndrome for constructing genotype-phenotype correlation
| Project/Area Number |
20791189
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
NAKANISHI Hiroshi Hamamatsu University School of Medicine, 医学部, リサーチアシスタント (20444359)
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| Project Period (FY) |
2008 – 2009
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| Keywords | 遺伝子 / 感音難聴 / 網膜色素変性症 / アッシャー症候群 |
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| Research Abstract |
Mutation analysis of USH2A in 10 unrelated Japanese patients with Usher syndrome type 2 revealed 14 different pathogenic mutations in 8 patients. Of these, 11 mutations were novel. Splicing mutation c.8559-2A>G was identified in 4 of 10 patients. These results indicate that mutation spectrum for USH2A among Japanese patients differs from that of European Caucasians and c.8559-2A>G may be a frequent mutation in Japanese patients.
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