Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period.

ABSTRACT:

Background

Diagnosis of hereditary hearing loss (HHL) as a heterogeneous disorder is very important especially in countries with high rates of consanguinity where the autosomal recessive pattern of inheritance is prevalent. Techniques such as next-generation sequencing, a comprehensive genetic test using targeted genomic enrichment and massively parallel sequencing (TGE + MPS), have made the diagnosis more cost-effective. The aim of this study was to determine HHL variants with comprehensive genetic testing in our country.

Methods

Fifty GJB2 negative individuals with HHL were referred to the Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, one of the reference diagnostic genetic laboratories in Iran, during a 3-year period between 2014 and 2017. They were

SUBMITTER: Bazazzadegan N 

PROVIDER: S-EPMC6908923 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature