ArticleHuman genetics2022
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 17 citations in OpenAlex.
- Observational
- A 62-aa core of the cochlin LCCL domain induces macrophage M1 polarization in vitro.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2026Article
- Recent preclinical and clinical advances in gene therapy for hereditary hearing loss.Molecules and cells · 2025Review
- TMEM145 is a key stereociliary component in the link structures of outer hair cells and mediates the secretion of stereocilin and tubby.Nature communications · 2025Article
- Biomarker Signatures in Time-Course Progression of Neuropathic Pain at Spinal Cord Level Based on Bioinformatics and Machine Learning Analysis.Biomolecules · 2025Article
- Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.Experimental & molecular medicine · 2025Article
- Common genetic etiologies of sensorineural hearing loss in Koreans.Genomics & informatics · 2024Review
- Natural History of Auditory Function in Patients with Alport Syndrome: A Case Series Study.Journal of clinical medicine · 2024Article
- MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.Experimental & molecular medicine · 2024Article
- Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.Scientific reports · 2024Article
- A NovelLife (Basel, Switzerland) · 2023Article
- Novel Variant inCells · 2023Article
- Overlooked KCNQ4 variants augment the risk of hearing loss.Experimental & molecular medicine · 2023Article
- Article
- Clinical Heterogeneity Associated withBiomedicines · 2022Article
- MiR-200c-3p affects cochlear hair cells damaged by oxidative stress via modulating Taok1 expression.American journal of translational research · 2021Article
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
Abstract
This phenotype-genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential ethnic-specific differences associated with COCH-related hearing loss. Eight Korean families (26 cases) were diagnosed with COCH-related hearing loss by exome sequencing. Audiometric test results were combined with those from nine published East Asian families (20 cases) and compared with those from 38 European-descent families (277 cases). Audioprofiles were created by grouping audiometric test results into age ranges by age at testing and then averaging hearing loss thresholds by frequency within age ranges. The functional impact of the identified variants was assessed in vitro by examining the intracellular trafficking, secretion, and cleavage of cochlin. In both East Asian and European-descent families segregating COCH-related hearing loss, deafness-associated variants in non-LCCL domains of cochlin were associated with hearing loss that was more severe earlier in life than hearing loss caused by variants in the LCCL domain. Consistent with this phenotypic difference, functional studies demonstrated distinct pathogenic mechanisms for COCH variants in a domain-dependent manner; specifically, a cytotoxic effect was observed for the p.Phe230Leu variant, which is located in the vWFA1 domain. No ethnic-specific differences in hearing loss progression were observed, except for those attributable to an overrepresentation of presymptomatic cases in the European-descent cohort.
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Registered trials
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