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Article

Mutation in the COCH gene is associated with superior semicircular canal dehiscence.

American journal of medical genetics. Part A - 1 Feb 2009

Hildebrand Michael S, Tack Dylan, Deluca Adam, Hur In Ae, Van Rybroek Jana M, McMordie Sarah J, Muilenburg Ann, Hoskinson David P, Van Camp Guy, Pensak Myles L, Storper Ian S, Huygen Patrick L M, Casavant Thomas L, Smith Richard J H

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Identifiers

PMID: 19161137
DOI: 10.1002/ajmg.a.32618
PMCID: PMC2632720

Genes

COCH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation in the COCH gene is associated with superior semicircular canal dehiscence.PMID 19161137Read ↗

[Gene mutation and cochlea environment].Semantic proximity Read ↗

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutationSemantic 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 ↗

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

Genotype-Phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9) Part II: A Prospective Cross-Sectional Study of the Vestibular Phenotype in 111 Carriers.Semantic proximity Read ↗

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.Semantic proximity Read ↗

Cochlear implantation and Pendred's syndrome mutation in monozygotic twins with large vestibular aqueduct syndrome.Semantic proximity Read ↗

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.Semantic proximity Read ↗

CDH23 Related Hearing Loss: A New Genetic Risk Factor for Semicircular Canal Dehiscence?Semantic proximity Read ↗

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.Semantic proximity Read ↗

Cochlear health in a cohort of cochlear implant users carrying the p.Pro51Ser variant in the COCH gene (DFNA9): A cross-sectional study evaluating the changes in the electrically evoked compound action potential (eCAP).Semantic proximity Read ↗

Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.Semantic proximity Read ↗

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