POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO A VERY RARE COCH PATHOGENIC VARIANT
Journal Title: Journal of Hearing Science - Year 2018, Vol 8, Issue 1
Abstract
Background: The COCH gene encoding cochlin is highly expressed in the inner ear but the exact physiological function of the protein still remains unknown. Pathogenic variants located in COCH cause autosomal dominant hearing loss with possible vestibular involvement. Materials and methods: A five-generation Polish family with autosomal dominant hearing loss and tinnitus was recruited for the study. Au- diological and vestibular assessments were conducted and clinical exome sequencing was performed in the index patient. Next, co-segrega- tion of the detected variant with hearing loss in the family was confirmed using Sanger sequencing. Results: All affected individuals presented postlingual, progressive hearing loss mainly affecting high frequencies. No vestibular dysfunction was detected. In this study, we have identified a very rare COCH p.Ile372Thr pathogenic variant that segregated with the disease. Conclusions: Our study provides an independent confirmation of the pathogenic role of COCH p.Ile372Thr in hearing loss. In addition to hearing loss, individuals with COCH pathogenic variants may also suffer from tinnitus and vertigo.
Authors and Affiliations
Dominika Oziębło, Grażyna Tacikowska, Henryk Skarżyński, Monika Ołdak
Keywords
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- EP ID EP404839
- DOI 10.17430/1002738
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