A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.

ABSTRACT:

Background

The enlarged vestibular aqueduct (EVA), associated with mutations in the SLC26A4 gene, characterized by non-syndromic hearing loss, is an autosomal recessive disorder. Here, we intended to investigate genetic causes of hearing loss in a Han Chinese man.

Method

First, whole-exome sequencing was performed to identify the gene mutations responsible for hearing loss in the proband. Sanger sequencing was used to verify the candidate mutations detected in the family. Next, we collected blood samples and clinical data from the three-generation pedigree. Finally, SLC26A4 mRNA and protein expression levels were detected by qPCR and western blotting.

Result

The proband suffered from bilateral progressive sensorineural hearing loss with EVA. The sequence analysis of S

SUBMITTER: Wu T 

PROVIDER: S-EPMC8898487 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature