Research of geneticdistributionand clinical applicationin patients with enlarged vestibular aqueduct and Pendred syndrome in Okinawa islands.

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We investigated the frequencies of SLC26A4mutations of patients with EVA or PS living in the Okinawa Islands. The substitution of IVS15+5G>A in SLC26A4 was the most common mutation in uniquely found in patients with PS and EVA in Okinawa Islands. This suggested that the spectrum of SLC26A4 mutation differed from main islands of Japan and other East Asian countries. We surveyed the substitution IVS15+5G>A in 100 healthy objects as control.Based on qRT-PCR results, expression of SLC26A4 was not identified in patients with the homozygous substitution of IVS15+5G>A.Our result suggested that IVS15+5G>A is a pathogenic substitution and the cause of the frequent substitution might be the existence of a common ancestor.