Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.

ABSTRACT:

Background

In the present study, we investigate the prevalence of the GJB2 gene mutations, and deletions in the GJB6 gene, namely del (GJB6-D13S1830) and del (GJB6-D13S1854), in patients with autosomal recessive non-syndromic hearing loss (ARNSHL) from the central region of Iran.

Methods

One hundred and thirty-one unrelated ARNSHL cases from the central part of Iran were recruited. Among them, 81% (106 cases) had at least two affected relatives. Coding and noncoding regions of the GJB2 gene were sequenced. Multiplex PCR was used for analysis of del (GJB6-D13S1830) and del (GJB6-D13S1854) deletions in GJB6.

Results

The GJB2 variants were found in 16.79% (22/131) of the patients. The pathogenic variants were 21/131 (16.03%). The nonpathogenic variants were 1/131 (0. 07%

SUBMITTER: Naddafnia H 

PROVIDER: S-EPMC6625131 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature