Compound Heterozygosity for Two Novel SLC26A4 Mutations in a Large Iranian Pedigree with Pendred Syndrome.

ABSTRACT:

Objectives

The aim of this study was to detect the genetic cause of deafness in a large Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about the gene mutations can be beneficial in molecular detection and management of deaf patients.

Methods

We investigated the genetic etiology in a large consanguineous family with 9 deaf patients from Fars province of Iran with no GJB2 mutations. Initially, linkage analysis was performed by four DFNB4 short tandem repeat markers. The result showed linkage to DFNB4 locus. Following that, DNA sequencing of all 21 exons, their adjacent intronic sequences and the promoter of SLC26A4 was carried out for mutation detection.

Results

Two novel mutations (c.863-864insT and c.881-882delAC) were identified

SUBMITTER: Yazdanpanahi N 

PROVIDER: S-EPMC3863667 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature