Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

Autosomal-dominant sensorineural hearing loss is genetically heterogeneous, with a phenotype closely resembling presbycusis, the most common sensory defect associated with aging in humans. We have identified SLC17A8, which encodes the vesicular glutamate transporter-3 (VGLUT3), as the gene responsible for DFNA25, an autosomal-dominant form of progressive, high-frequency nonsyndromic deafness. In two unrelated families, a heterozygous missense mutation, c.

EYA1 expression in the developing inner ear.

Objectives: We sought to determine the developmental anatomy and EYA1 protein distribution in the inner ear of Xenopus laevis.

Methods: Xenopus laevis embryos were stained with monoclonal antibodies and imaged with confocal microscopy.

Results: At stage 27, the otocyst fully forms, with strong tubulin staining of early sensory cells at its ventromedial aspect.