Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.

ABSTRACT:

Background

The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patients.

Methods

The patients were subjected to multiplex PCR amplification and next-generation sequencing of common deafness genes (including GJB2, SLC26A4, and MT-RNR1), then bioinformatics analysis was performed on the sequencing data to identify candidate pathogenic variants. Minigene experiments were conducted to determine the potential impact of the variants on splicing.

Results

Genetic testing revealed that the first patient carried compound heterozygous variants c.[1149 + 1G > A]

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC11430457 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature