Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

ABSTRACT:

Background

Hearing loss is considered one of the most common sensory nervous system defects, about 60% of which are caused by genetic factors. Mutations in the GSDME gene are responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize the genetic mutations and clinical features of a Chinese GSDME family.

Methods

After clinical evaluations, high-throughput DNA sequencing was conducted using DNA samples from this family. Sanger sequencing was performed to verify the suspected variants. A detailed genotype and phenotype analysis were carried out. Gene set enrichment analysis (GSEA) was performed to identify the signaling pathway associated with GSDME expression.

Results

A known hotspot heterozygous splice-site variation (c

SUBMITTER: Lei P 

PROVIDER: S-EPMC9645625 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature