Screening for GJB2 and GJB6 mutations in the Slovak deaf population

Lukas Varga, Ivica Masindova, Miroslava Huckova, Andrea Jovankovicova, Martina Balogova, Suchova Lubica, Klimes Iwar, Daniela Gasperikova & Milan Profant
Introduction: Mutations of connexin genes account for up to 50% of prelingual bilateral sensorineural hearing loss (SNHL). In Slovakia the deaf population is estimated to reach about 9000 individuals. However, reliable data on bilateral SNHL etiology in Slovakia are not available to date. The aim of presented study was to analyze the GJB2 and GJB6 genes and describe their mutation spectrum in patients with bilateral SNHL and thus to determine epidemiology of one of the...