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Article

Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature.

Medicina (Kaunas, Lithuania) - 13 Feb 2023

Forli Francesca, Capobianco Silvia, Berrettini Stefano, Bruschini Luca, Romano Silvia, Fogli Antonella, Bertini Veronica, Lazzerini Francesco

Abstract excerpt

Background and objectives: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two different clinical phenotypes: a prelingual severe-to-profound sensorineural hearing loss (ANSD-DFNB9); and the peculiar temperature-sensitive auditory neuropathy...

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Identifiers

PMID: 36837553
DOI: 10.3390/medicina59020352
PMCID: PMC9962730

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