2012 Fiscal Year Final Research Report
Genotype phenotype correlation analysis of the hearing loss patients with SLC26A4 mutation
| Project/Area Number |
22791587
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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 | Shinshu University |
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Principal Investigator |
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| Project Period (FY) |
2010 – 2012
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| Keywords | 耳科学 / 遺伝子 / SLC26A4 / 難聴 |
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| Research Abstract |
Mutations in SLC26A4 can cause a broad phenotypic spectrum, from typical Pendred syndrome to non-syndromic hearing loss associated with EVA (enlarged vestibular aqueduct). The identification of SLC26A4 mutations has become more important for highly accurate diagnosis, proper medical management and more appropriate genetic counseling for these patients. In this study, we analyzed one-hundred hearing patients with bilateral EVA registered in our gene bank. Fifteen had Pendred syndrome and 64 had non-syndromic hearing loss. Mutation analysis for SLC26A4 was performed to clarify the mutation spectrum. We confirmed the clinical characteristics of patients with SLC26A4 mutations: congenital, fluctuating, and progressive hearing loss usually associated with vertigo and/or goiter. But we could not find any genotype-phenotype correlations.
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