Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.

ABSTRACT:

Background

Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics. WS1 and WS2 are the most common and have a dominant inheritance. WS2 is caused by mutations in the microphthalmia-associated transcription factor (MITF) gene.

Methods

An Iranian couple with hearing loss was recruited in the present study. First, they were screened for GJB2 and GJB6 gene mutations, and then whole-exome sequencing 100X was performed along with bioinformatics analysis.

Results

A novel pathogenic heterozygous mutation, c.425T>A; p.L142Ter, was detected in the MITF gene'

SUBMITTER: Nasirshalal M 

PROVIDER: S-EPMC8183924 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature