Article
Cochlear health in a cohort of cochlear implant users carrying the p.Pro51Ser variant in the COCH gene (DFNA9): A cross-sectional study evaluating the changes in the electrically evoked compound action potential (eCAP).
Hearing research - 1 May 2025
Moyaert Julie, Gilles Annick, Ramekers Dyan, Mertens Griet, Fransen Erik, Cardon Emilie, Biot Lana, Verhelst Eline, Van Rompaey Vincent, Lammers Marc Jw
Abstract excerpt
The present study focuses on DFNA9, an autosomal dominant disorder caused by pathogenic variants in the COCH gene. These mutations induce the formation of aggregates that are toxic to the fibrocytes in the extracellular matrix, ultimately leading to degeneration of spiral ganglion neurons (SGNs), which are crucial for transmitting auditory signals from the cochlea to the brain. An important tool for evaluating...
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