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
Sebastien JanssensdeVarebekeVincent Van Rompaey

Abstract

The 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. Scientific 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. The 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. Both audiometric and vestibular data were processed with much differ...Continue Reading

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Citations

Jan 31, 2020·Frontiers in Neurology·Berina IhtijarevicVincent Van Rompaey
Feb 9, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Camille LevieVincent Van Rompaey
Mar 13, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Jeroen J SmitsRonald J E Pennings
Jan 26, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Mahadi SalahVincent Van Rompaey

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