Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.

ABSTRACT: Recessive variants of the SLC26A4 gene are globally a common cause of hearing impairment. In the past, cell lines and transgenic mice were widely used to investigate the pathogenicity associated with SLC26A4 variants. However, discrepancies in pathogenicity between humans and cell lines or transgenic mice were documented for some SLC26A4 variants. For instance, the p.C565Y variant, which was reported to be pathogenic in humans, did not exhibit functional pathogenic consequences in cell lines. To address the pathogenicity of p.C565Y, we used a genotype-based approach in which we generated knock-in mice that were heterozygous (Slc26a4^+/C565Y), homozygous (Slc26a4^C565Y/C565Y), and compound heterozygous (Slc26a4^919-2A>G/C5

SUBMITTER: Hu CJ 

PROVIDER: S-EPMC8001573 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature