Sensorineural hearing loss associated with biallelic OTOF mutations

Sensorineural hearing loss associated with biallelic *OTOF* mutations is an autosomal recessive, nonsyndromic auditory disorder characterized by prelingual, typically severe-to-profound bilateral hearing impairment

Sensorineural hearing loss associated with biallelic *OTOF* mutations is an autosomal recessive, nonsyndromic auditory disorder characterized by prelingual, typically severe-to-profound bilateral hearing impairment Pathophysiologically, loss-of-function variants in both alleles of the *OTOF* gene disrupt the synthesis of otoferlin, a calcium sensor protein essential for synaptic vesicle exocytosis and neurotransmitter release at the ribbon synapses of cochlear inner hair cells

Sensorineural hearing loss associated with biallelic *OTOF* mutations is an autosomal recessive, nonsyndromic auditory disorder characterized by prelingual, typically severe-to-profound bilateral hearing impairment

It affects the peripheral auditory system, specifically presenting as an auditory synaptopathy or auditory neuropathy spectrum disorder (ANSD) Pathophysiologically, loss-of-function variants in both alleles of the *OTOF* gene disrupt the synthesis of otoferlin, a calcium sensor protein essential for synaptic vesicle exocytosis and neurotransmitter release at the ribbon synapses of cochlear inner hair cells

It affects the peripheral auditory system, specifically presenting as an auditory synaptopathy or auditory neuropathy spectrum disorder (ANSD) Clinically, affected individuals demonstrate absent or severely abnormal auditory brainstem responses alongside preserved outer hair cell function, as evidenced by intact otoacoustic emissions or cochlear microphonics

Clinically, affected individuals demonstrate absent or severely abnormal auditory brainstem responses alongside preserved outer hair cell function, as evidenced by intact otoacoustic emissions or cochlear microphonics