A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.

ABSTRACT:

Background

Autosomal recessive non-syndromic hearing loss (ARNSHL) is genetically and phenotypically heterogeneous with over 110 genes causally implicated in syndromic and non-syndromic hearing loss. Here, we investigate the genetic etiology of deafness in two GJB2 and GJB6 negative patients presenting with pre-lingual, progressive, severe hearing loss.

Methods

Targeted exome sequencing (TES) using Next Generation Illumina Sequencing was used to analyze the exonic and some other important genomic regions of 154 genes in the proband. Subsequently, the mutation found was confirmed by Sanger sequencing in other affected sibling and healthy family members. The possible impact of the reported mutation on the corresponding protein was also evaluated by using bioinformatics tools.

SUBMITTER: Fahimi H 

PROVIDER: S-EPMC7852090 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature