A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Mutations in the TWNK gene were described in patients with Perrault syndrome—an autosomal-recessive disease that includes hearing loss, central auditory and speech disorders, cerebellar ataxia, motor and sensory neuropathy, and ovarian dysfunction. Only around 100 cases of Perrault syndrome have been described to date. Genetically, it caused by biallelic pathologic variants in 1 of 6 genes.