| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
Recently, by the developement of mutation screening, 30-35% of congenital hearing loss patients could be diagnosed as genetic cause. The detailed audiologic features, including genotype-phenotype correlations and progression in patients with genetic mutations, have been well studied. However, there have been only a few reports on vestibular function of hereditary hearing loss patients despite abundant gene and protein expression of causative genes in the vestibular end organs. We summarize the results of our comprehensive study on vestibular function in patients with hearing loss caused by GJB2, SLC26A4, CDH23 mutation. In this study, we found the high incidence of saccular defects in patients with GJB2 mutations and semicircular canal dysfunction in patients with SLC26A4 mutations. This result will also facilitate the clinical application of genetic counseling for these patients and their families.
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