THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.

ABSTRACT:

Background

Prelingual hearing impairment (HI) is genetically highly heterogenous. Early diagnosis and intervention are essential for psychosocial development. In this study we investigated a consanguineous family from Pakistan with autosomal recessive (AR) non-syndromic sensorineural HI (NSHI).

Methods

A DNA sample from an HI member of a consanguineous Pakistani family segregating ARNSHL underwent exome sequencing. Using Sanger sequencing select variants were validated and tested for segregation using DNA samples from additional family members. We further investigated RNA expression data for the candidate gene in mouse and human inner ear and human inner ear organoids using data obtained from the gene Expression Analysis Resource.

Results

We identified thrombospondin

SUBMITTER: Bharadwaj T 

PROVIDER: S-EPMC11657631 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature