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

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).

For audiologists and geneticists: when autosomal dominant non-syndromic sensorineural hearing loss is suspected, COCH gene testing is warranted; newly identified variants from this cohort may expand diagnostic panels, but clinical management protocols are not yet changed by these findings.

Expanding the catalogue of COCH variants and clarifying genotype-phenotype relationships directly supports more accurate genetic counselling and future gene-therapy target development for hereditary hearing loss.

1. 01Novel pathogenic variants in the COCH gene were identified in a French cohort with hereditary hearing loss.
2. 02COCH variants cause autosomal dominant non-syndromic sensorineural hearing loss (DFNA9).
3. 03Genotype-phenotype correlations were described, linking specific variants to clinical presentation patterns.
4. 04Heterozygous (one affected copy) variants were characterised, consistent with dominant inheritance.
5. 05Findings expand the known spectrum of COCH-related hearing loss for diagnostic and counselling purposes.

PMID

42195045

DOI

10.3390/genes17050588.

Journal

Genes

Publication type

research_article

Evidence level

4

Population

French cohort with autosomal dominant non-syndromic sensorineural hearing loss carrying heterozygous COCH gene variants

Intervention

COCH gene variant characterisation and genotype-phenotype correlation analysis