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Article

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

Genes - 21 May 2026

Balogoun Ralyath, Serey-Gaut Margaux, Pingault Véronique, Lemiere Isabelle, Lina-Granade Geneviève, Delplancq Geoffroy, Guerrot Anne Marie, Toutain Annick, Dupin-Deguine Delphine, Legendre Marine, Colin Estelle, Loundon Natalie, Jonard Laurence, Marlin Sandrine

Abstract excerpt

Objectives: To characterize heterozygous pathogenic COCH variants in a French cohort with non-syndromic sensorineural hearing loss (NSHL) and assess genotype-phenotype correlations in autosomal dominant NSHL (DFNA9). Setting: National Reference Center for Genetic Hearing Loss, Necker-Enfants Malades Hospital, Paris, France. Methods: This retrospective observational study included 69 individuals from 20 unrelated...

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Identifiers

PMID: 42195045
DOI: 10.3390/genes17050588
PMCID: PMC13206081

Genes

COCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.PMID 42195045Read ↗

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

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.Semantic proximity Read ↗

[Phenotype predictions of the pathogenic nonsynonymous single nucleotide polymorphisms in deafness-causing gene COCH].Semantic proximity Read ↗

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.Semantic proximity Read ↗

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Detailed hearing and vestibular profiles in the patients with COCH mutations.Semantic proximity Read ↗

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Semantic proximity Read ↗

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