Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.

ABSTRACT: More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health officials to promote genetic counseling of affected families with regard to high allele frequencies of prevalent pathogenic variants and assortative mating in the community of people with hearing loss. In this study, genetic heterogeneity of hereditary non-syndromic sensorineural hearing loss (NSNHL) in a cohort of 109 patients and an assessment of the frequency of two GJB2 gene pathogenic variants in a cohort of 349 healthy individuals from the populations of the Republic of North Ossetia-Alania (RNO-Alania) were assessed. The molecular ge

SUBMITTER: Petrova N 

PROVIDER: S-EPMC9893906 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature