Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.

ABSTRACT:

Background

Hereditary hearing loss (HHL) is a clinically and genetically heterogeneous sensorineural disorder that presents challenges for diagnosis. Next-generation sequencing (NGS) approaches have facilitated a more cost-effective, streamlined diagnostic process. This study aimed to identify HHL variants using NGS in Iranian Azeri families in Ardabil Province, establishing a suitable framework for screening programs tailored to the local population.

Methods

Seventy-four GJB2-negative Azeri families with HHL from Ardabil Province of Iran were studied using the OtoSCOPE panel and/or exome sequencing over 15-years from 2008 to 2023.

Results

Data analysis revealed 53 HHL variants in 52 of the 74 most consanguineous families (70%), including 34 pathogenic/likely pathogen

SUBMITTER: Mohseni M 

PROVIDER: S-EPMC11836346 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature