2011 Fiscal Year Final Research Report
Elucidation of genetic backgrounds of auditory neuropathy specific to Japanese population
| Project/Area Number |
21592172
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | 独立行政法人国立病院機構東京医療センター(臨床研究センター) (2011)
独立行政法人国立病院機構(東京医療センター臨床研究センター) (2009-2010) |
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Principal Investigator |
MATSUNAGA Tatsuo 独立行政法人国立病院機構東京医療センター(臨床研究センター), 聴覚障害研究室, 室長 (90245580)
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| Co-Investigator(Kenkyū-buntansha) |
MUTAI Hideki 国立病院機構東京医療センター臨床研究センター, 聴覚障害研究室, 研究員 (60415891)
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| Co-Investigator(Renkei-kenkyūsha) |
KAGA Kimitaka 国立病院機構東京医療センター, 臨床研究センター, 名誉臨床研究センター長 (80082238)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 耳科学 |
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| Research Abstract |
Genetic analysis of unrelated 23 Japanese patients with auditory neuropathy revealed that mutations of OTOF were identified in 16 patients and 13 of them had p. R1939Q missense mutation. Other than p. R1939Q mutation, each mutation was identified in only one patient. Haplotype analysis of p. R1939Q missense mutation of OTOF using adjacent SNPs demonstrated a founder effect for this mutation. These results first revealed genetic backgrounds of auditory neuropathy specific to Japanese.
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[Journal Article] A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy
Author(s)
Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K
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Journal Title
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