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Article

DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.

The Laryngoscope - 1 Aug 2000

Khetarpal U

Abstract excerpt

OBJECTIVES: Several mutations in the COCH gene were recently identified in American and European families with DFNA9, an autosomal dominant progressive sensorineural hearing loss with onset in high frequencies. Our preliminary vestibular studies in one American family indicated progressive vestibular dysfunction. More complete vestibular studies in European families have shown vestibular abnormalities in the...

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Share to Disease Progression
Share to Glycosaminoglycans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10942145
DOI: 10.1097/00005537-200008000-00030

Genes

COCH

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.PMID 10942145Read ↗

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).Semantic proximity Read ↗

Extralabyrinthine manifestations of DFNA9.Semantic proximity Read ↗

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.Semantic proximity Read ↗

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.Semantic proximity Read ↗

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

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.Semantic proximity Read ↗

Hereditary Otovestibular Dysfunction and M??ni??re's Disease in a Large Belgian Family Is Caused by a Missense Mutation in the COCH GeneSemantic proximity Read ↗

Expression of cochlin in the vestibular organ of rats.Semantic proximity Read ↗

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.Semantic proximity Read ↗

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.Semantic proximity Read ↗

Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.Semantic proximity Read ↗

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].Semantic proximity Read ↗

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