Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation

The present study disclosed the unique SLC26A4 mutation spectrum in Taiwan, confirmed that IVS7-2A>G arose from a common ancestor, and demonstrated the lack of correlation between genotypes and phenotypes. High prevalence of certain SLC26A4 mutations in East Asians, as revealed here and previously, might largely facilitate mutation screening and genetic counseling in these areas.