Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

ABSTRACT:

Introduction

In different parts of the world, mutations in the GJB2 gene are associated with nonsyndromic hearing loss, and the homozygous 35delG mutation (p.Gly12Valfs*2) is a major cause of hereditary hearing loss. However, the 35delG mutation is not equally prevalent across ethnicities, making it important to study other mutations, especially in multiethnic countries such as Brazil.

Objective

This study aimed to identify different mutations in the GJB2 gene in patients with severe to profound nonsyndromic sensorineural hearing loss of putative genetic origin, and who were negative or heterozygote for the 35delG mutation.

Methods

Observational study that analyzed 100 ethnically characterized Brazilian patients with nonsyndromic severe to profound sensorineural heari

SUBMITTER: Felix F 

PROVIDER: S-EPMC9442831 | biostudies-literature | 2019 Jan - Feb

REPOSITORIES: biostudies-literature