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Article

The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.

Human genetics - 1 Oct 2023

Ford Charles L, Riggs William J, Quigley Tera, Keifer Orion P, Whitton Jonathon P, Valayannopoulos Vassili

Abstract excerpt

Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which encodes the calcium-binding protein otoferlin, are responsible for 1-8% of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. The natural history of otoferlin-related hearing loss, the relationship between OTOF genotype and hearing loss phenotype, and the outcomes of...

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Identifiers

PMID: 37679651
DOI: 10.1007/s00439-023-02595-5
PMCID: PMC10511631

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The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.PMID 37679651Read ↗

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