Deafness, Autosomal Recessive 9 (OTOF)

Autosomal recessive deafness 9 is caused by pathogenic variants in the gene OTOF. A higher incidence of this disorder is noted in individuals of Spanish ancestry. The condition is characterized by non-progressive, congenital, severe to profound sensorineural hearing loss. Typically affected individuals have absent auditory brainstem response and normal otoacoustic emissions. This pattern of findings is termed auditory neuropathy spectrum disorder. Individuals with this form of hearing loss do not experience any other disease manifestations. Cochlear implants have been shown to be effective for individuals with OTOF-related deafness. Rarely, this disorder can also present as temperature-sensitive nonsyndromic auditory neuropathy, where significant hearing loss ranging from severe to profound occurs in the presence of fever. Life expectancy is normal. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):