The present study, through WES, Sanger sequencing, and minigene approaches, describes a splice acceptor site mutation (NM_194248: c.3289-1G>T) in OTOF that causes profound hearing loss; now that this splice-site variant has been implicated as pathogenic for hearing loss, the results provide evidence that that these findings will facilitate the diagnosis of deafness/hearing loss in future studies. Here, OTOF is linked to deafness.