Abstract
Auditory Neuropathy (AN) is a disorder of auditory information processing caused by dysfunction in inner hair cells, synapses, spiral ganglion cells, and auditory nerves. Patients with AN typically have normal sound detection abilities but struggle with speech comprehension. Representing 10% of cases of permanent hearing loss in children, AN is a significant contributor to hereditary deafness. The otoferlin protein, encoded by the OTOF gene, is involved in the fusion of Ca(2+)-dependent synaptic vesicles in inner hair cells and neurotransmitter release. Mutations in the OTOF gene are a major cause of AN. Patients with OTOF mutations exhibit distinct cochlear microphonic waveforms compared to other AN patients and may experience temperature-sensitive AN. Although most individuals with OTOF mutations present with stable, congenital, or prelingual onset of severe to profound hearing loss, some show atypical clinical phenotypes. The genotype-phenotype correlation in OTOF-related AN is still not fully understood. This review aims to explore the pathogenic mechanisms and the latest research progress in otoferlin-related AN based on current findings.