Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.

ABSTRACT: Usher syndrome (USH) is the leading cause of combined deafness and blindness, with USH2A being the most prevalent form. The mechanisms responsible for this debilitating sensory impairment remain unclear. This study focuses on characterizing the auditory phenotype in a mouse model expressing the c.2290delG mutation in usherin equivalent to human frameshift mutation c.2299delG. Previously we described how this model reproduces patient's retinal phenotypes. Here, we present the cochlear phenotype, showing that the mutant usherin, is expressed during early postnatal stages. The c.2290delG mutation results in a truncated protein that is mislocalized within the cell body of the hair cells. The knock-in model also exhibits congenital hearing loss that remains consistent throughout the animal's li

SUBMITTER: Crane R 

PROVIDER: S-EPMC10497539 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature