| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Outline of Final Research Achievements |
In this study, a targeted next generation resequencing panel including 98 known hearing loss genes was used to identify the genetic etiology in patients with congenital or progressive hearing loss. 51 unrelated families with syndromic or non-syndromic hearingloss were recruited. In 25 of 51 hearing loss families we identified pathogenic mutations. Among these mutations, 14 were novel mutations. Mutations in SLC26A4 and SLC26A4 were frequent and important causes of hearing loss in Okinawa islands. Mutation detection rate of our study is 49%, indicating the usefulness of our targeted sequencing panel in Okinawa islands. The mutation in GJB2 was identified in one family. GJB2 was not most common causative gene for hearing loss in Okinawa. The present data suggeste a difference in the spectrum of causative genes for hearing loss among patients in Okinawa Islands compared with patients in the main lands Japan.
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