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Article

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Biomolecules - 27 Jan 2022

Robijn Sybren M M, Smits Jeroen J, Sezer Kadriye, Huygen Patrick L M, Beynon Andy J, van Wijk Erwin, Kremer Hannie, de Vrieze Erik, Lanting Cornelis P, Pennings Ronald J E

Abstract excerpt

Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype correlations using the PRISMA and HuGENet guidelines. Study characteristics, risk of bias, genotyping and data on the self-reported age of onset, symptoms of vestibular...

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Identifiers

PMID: 35204720
DOI: 10.3390/biom12020220
PMCID: PMC8961530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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