A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.

Abstract excerpt

CONCLUSIONS: We describe a Japanese family with high-frequency sensorineural hearing loss (SNHL) harboring a c.211delC mutation in the KCNQ4 gene. Families showing progressive high-frequency SNHL should be investigated for mutations in the KCNQ4 gene. OBJECTIVE: To determine the responsible deafness gene in a Japanese family with dominantly inherited high-frequency SNHL of unknown etiology. METHODS: We performed...

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