Mutation analysis of the SLC26A4 gene in patients in Yakutia with inner ear abnormalities: IP-I, IP-II (Mondini) and / or EVA

Abstract

We presents the results of audiological, radiological and molecular genetic studies of 165 patients with congenital hearing impairment in Yakutia to investigate of autosomal recessive form of deafness associated with anomalies of the inner ear (IP-I, IP-II and / or EVA) and mutations in the SLC26A4 gene (DFNB4, MIM 600791).