Identification of a Novel Likely Pathogenic Variant of <i>DIAPH3</i> Associated With New Phenotype of Sensorineural Hearing Loss

We first identified the likely pathogenic variant DIAPH3 c.1472A>G in a Chinese family with non-syndromic genetic hearing loss. This point mutation of the DIAPH3 gene is associated with late-onset bilateral sensorineural hearing loss, distinguishing it from the auditory neuropathy previously reported in other studies. Our findings expand the phenotypic spectrum of DIAPH3-related disorders and underscore the importance of integrating genetic, electrophysiological, and molecular data to refine diagnostic and therapeutic strategies.