Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

ABSTRACT:

Introduction

Hearing loss is a frequent sensory impairment type in humans, with about 50% of prelingual cases being attributed to genetic factors. Autosomal recessive hearing loss (ARHL) exhibits great locus heterogeneity and is responsible for 70%-80% of hereditary nonsyndromic cases.

Methods

A total of 90 unrelated Brazilian individuals were selected for having hearing loss of presumably autosomal recessive inheritance, either born from consanguineous marriages or belonging to families with two or more affected individuals in the sibship and most cases were of normal hearing parents. In all cases, common pathogenic variants in GJB2 (c.35delG), GJB6 [del(GJB6-D13S1830) and del(GJB6-D13S1854)] and MT-RNR1 (m.1555A>G) were discarded and most were previous

SUBMITTER: Antunes LN 

PROVIDER: S-EPMC11532063 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature