MUTATIONAL SPECTRUM OF THE GJB2 GENE AS THE LEADING GENETIC CAUSE OF NON-SYNDROMIC SENSORINEURAL HEARING LOSS IN CHILDREN
Madrimova A.GTashkent State Medical University, Tashkent, Uzbekistan
Zenodo (CERN European Organization for Nuclear Research)repository2026
ABI
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.
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