Елизавета Шаронова » Публикация

Аннотация The most frequent mutations responsible for non-syndromic autosomal-recessive form of neurosensory hearing loss in genes GJB2 (35delG), GJB6 (del (GJB6-d18S1830) and del (GJB6-d13S1854)) and TMC1 (R34X) were analyzed. Molecular-genetic testing was performed in Kirov region on 125 probands with non-syndromic neurosensory hearing loss, having hearing disorders of different etiology. 35delG mutation in GJB2 gene was found in 36 probands. There were no del(GJB6-d18S1830) and del(GJB6-d13S1854) mutations in GJB6 gene or R34X mutation in TMC1 gene found in analyzed samples. Thus, during genetic consultation of neurosensory hearing loss patients of russian nationality searching for 35delG mutation in GJB2 gene is most crucial as in European populations. Recent results and our previous research on Russia etnical groups show that the development of region-specific examination protocols for non-syndromic neurosensory hearing loss patients is needed.