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Article

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.

The Laryngoscope - 1 Dec 2010

Hildebrand Michael S, Gandolfo Luke, Shearer A Eliot, Webster Jennifer A, Jensen Maren, Kimberling William J, Stephan Dietrich, Huygen Patrick L M, Smith Richard J H, Bahlo Melanie

Abstract excerpt

OBJECTIVES/HYPOTHESIS: To determine the cause of autosomal dominant hearing loss segregating in an American family. STUDY DESIGN: Family study. METHODS: Otologic and audiometric examination was performed on affected family members. Genome wide parametric multipoint linkage mapping using a dominan...

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Source

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Identifiers

PMID: 21046548
DOI: 10.1002/lary.21159
PMCID: PMC3329724

Genes

COCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21046548-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.PMID 21046548Read ↗

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

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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Semantic proximity Read ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic 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 ↗

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunctionSemantic proximity Read ↗

A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.Semantic proximity Read ↗

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.Semantic proximity Read ↗

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