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Article

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

1 Feb 1999

Abstract excerpt

We analysed a Dutch family with autosomal dominant non-syndromic progressive sensorineural hearing loss and mapped the underlying gene defect by genetic linkage analysis to a 11.0 cM region overlapping the DFNA9 interval on chromosome 14q12-q13. Clinically, the Dutch family differs from the original DFNA9 family by a later age at onset and a more clearly established vestibular impairment. A gene that is highly...

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Identifiers

PMID: 9931344
DOI: 10.1093/hmg/8.2.361

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsPMID 9931344Read ↗

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

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

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.Semantic 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 ↗

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

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.Semantic proximity Read ↗

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.Semantic proximity Read ↗

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.Semantic proximity Read ↗

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

Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.Semantic proximity Read ↗

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.Semantic proximity Read ↗

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