Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.

ABSTRACT:

Background

To investigate the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA), the SLC26A4-related genotypes and phenotypes were analyzed. SLC26A4 gene is closely associated with EVA and its homozygous mutations or compound heterozygous mutations may cause deafness and strongly affect quality of life.

Methods

The patients who came to our hospital for hearing test and accompanied by bilateral hearing abnormalities were collected for fifteen deafness-related gene mutations detection. Those who are positive will be verified by Sanger sequencing, combined with family history, hearing test, and computerized tomography (CT) of the temporal bone, aiming to diagnose the enlarged vestibular aqueducts. Whole-exome sequencing were performed when neces

SUBMITTER: He X 

PROVIDER: S-EPMC9270741 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature