Article
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.
Genes - 26 Nov 2020
Vona Barbara, Rad Aboulfazl, Reisinger Ellen
Abstract excerpt
The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to impaired release of synaptic vesicles at the IHC synapse. Biallelic pathogenic and likely pathogenic variants in OTOF predominantly cause autosomal recessive profound prelingual deafness, DFNB9. Due to the isolated defect...
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