Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss.

ABSTRACT:

Background

DIAPH3 variants are associated with non-syndromic autosomal dominant auditory neuropathy 1 (AUNA1). To the best of our knowledge, there are no reports of DIAPH3 variants causing sensorineural hearing loss. Here, we present a family with late-onset sensorineural hearing loss as an autosomal dominant trait, caused by a novel DIAPH3 variant.

Methods

Audiological examinations were conducted on family members. Whole exome sequencing was performed on the proband to detect candidate genes, and Sanger sequencing was used for other available family members to confirm the causative variation.

Results

The DIAPH3 c.1472A>G variant was identified as a disease-causing mutation in a Chinese family with late-onset hearing loss. Clinically, manifestations were bilateral sen

SUBMITTER: Zeng L 

PROVIDER: S-EPMC12787307 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature