ArticleEuropean journal of human genetics : EJHG2018
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 3 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 3 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Congenital deafness and vestibular disorders: a systematic literature review.Frontiers in neurology · 2024Pooled it
- Genotype-Phenotype Correlations of PathogenicBiomolecules · 2022Pooled it
- A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2019Pooled it
- Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function.Nucleic acids research · 2025Article
- Article
- COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.Human genetics · 2022Article
- Cochlin Deficiency Protects Aged Mice from Noise-Induced Hearing Loss.International journal of molecular sciences · 2021Article
- Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- AON-based degradation of c.151C>T mutantMolecular therapy. Nucleic acids · 2021Article
- Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.Human genetics · 2020Article
- Genetics of pediatric hearing loss: A functional perspective.Laryngoscope investigative otolaryngology · 2020Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here, we describe two brothers with congenital prelingual deafness and a homozygous nonsense c.292C>T(p.Arg98*) COCH variant, suggesting a loss-of-function effect. Vestibular dysfunction starting in the first decade was observed in the older patient. The heterozygous parents and sibling have normal hearing and vestibular function, except for the mother, who shows vestibular hyporeflexia and abnormal smooth pursuit tests, most likely due to concomitant disease. This is the first report of autosomal recessive inheritance of cochlea-vestibular dysfunction caused by a pathogenic variant in the COCH gene. An earlier onset of hearing impairment and vestibular dysfunction compared to the dominant hearing loss causing COCH variants is observed.
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