Mutations profiles of deafness genes in explosion-induced hearing loss caused by impulse noise

To screen the mutations of the deafness-related genes in explosion-induced hearing loss（EIHL）based on whole exome sequencing（WES）.

A cross-sectional study was conducted on a total of 105 workers who accepted long-term exposure of impulse noise. Noise testing was conducted in their working environment and pure tone audiometry was conducted on the workers. Whole exome sequencing was performed on workers with EIHL based on their audiometric results. The WES results were analyzed by bioinformatics to screen for mutations in genes related to deafness in workers with EIHL.

There were 75 workers with EIHL. The pure tone audiometry results showed, compared with the workers with normal hearing, the workers with EIHL displayed a worse performance in different frequencies（P<0.05）. Through screening of WES, the rare and detrimental missense mutations happened in 29 deafness-related genes among the workers with EIHL, including 37 harmful missense mutation sites. GJB4 had the highest frequency in mutation, which occurs in 4 workers, with mutation sites of C292T, C370T, and G376A.

GJB4 is the deafness-related gene with the highest mutation frequency in the workers with EIHL.