SynthesisEuropean 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 Surgery2019
A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.
Synthesis in 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, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genotype-Phenotype Correlations of PathogenicBiomolecules · 2022Pooled it
- [The cochlear extracellular matrix gene mutations and hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Review
- 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
- Practical tips by peer support in chronic vestibular hypofunction: an exploratory survey.Frontiers in neurology · 2023Article
- COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.Human genetics · 2022Article
- AON-based degradation of c.151C>T mutantMolecular therapy. Nucleic acids · 2021Article
- Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing.Experimental and therapeutic medicine · 2020Article
- On the Role of Fibrocytes and the Extracellular Matrix in the Physiology and Pathophysiology of the Spiral Ligament.Frontiers in neurology · 2020Review
- Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss.Frontiers in neurology · 2020Article
- Correlations Between Vestibular Function and Imaging of the Semicircular Canals in DFNA9 Patients.Frontiers in neurology · 2019Article
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesThe Pro51Ser (P51S) COCH mutation is characterized by a late-onset bilateral sensorineural hearing loss (SNHL) and progressive vestibular deterioration. The aim of this study was to carry out a systematic review of all reported hearing and vestibular function data in P51S COCH mutation carriers and its correlation with age. MATERIALS AND
methodsScientific databases including Medline, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, ISI Web of Knowledge, and Web of Science were searched to accumulate information about hearing outcome and vestibular function. Eleven genotype-phenotype correlation studies of the P51S COCH variant were identified and analyzed.
resultsThe SNHL starts at the age of 32.8 years. The Annual Threshold Deterioration is 3 decibel hearing loss (dB HL) per year (1-24 dB HL/year). Profound SNHL was observed at 76 years on average (60-84 years). 136 individual vestibular measurements were collected from 86 carriers. The onset of the vestibular dysfunction was estimated around 34 years (34-40 years), and vestibular deterioration rates were higher than those of the SNHL, with complete bilateral loss observed between 49 and 60 years.
conclusionBoth audiometric and vestibular data were processed with much different methodologies and pre-symptomatic P51S carriers were systematically underrepresented. Further delineation of this correlation would benefit cross-sectional and longitudinal study involving all (pre-symptomatic and symptomatic) P51S carriers.
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