MUTATIONAL SPECTRUM OF THE GJB2 GENE AS THE LEADING GENETIC CAUSE OF NON-SYNDROMIC SENSORINEURAL HEARING LOSS IN CHILDREN

Abstract

Hereditary hearing impairment accounts for 50–60% of all congenital hearing loss cases worldwide, with non-syndromic sensorineural hearing loss (NSSNHL) representing the most prevalent form (70–80%). Mutations in the GJB2 gene encoding Connexin 26 are recognized as the predominant cause of autosomal recessive NSSNHL across European and Central Asian populations. Despite growing international evidence, population-specific mutation frequencies in Uzbekistan remain insufficiently characterized.