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

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

<i>Background and objectives</i>: 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 p...

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Bibliographic Details
Main Authors: Francesca Forli, Silvia Capobianco, Stefano Berrettini, Luca Bruschini, Silvia Romano, Antonella Fogli, Veronica Bertini, Francesco Lazzerini
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Medicina
Subjects:
temperature-sensitive auditory neuropathy
OTOF
otoferlin
deafness
targeted next-generation sequencing
Online Access:https://www.mdpi.com/1648-9144/59/2/352

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https://www.mdpi.com/1648-9144/59/2/352

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