Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4114234 | International Journal of Pediatric Otorhinolaryngology | 2010 | 5 Pages |
ObjectivePurpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy.MethodsFour children showing mild to profound prelingual deafness, confirmed by the absence of a clear and detectable responses at auditory brainstem responses (ABR), associated with the presence of bilateral OAE, were enrolled in the study.Results and ConclusionsGenetic analysis identified five new mutations (a nonsense, a small and a large deletion and two splicing site mutations), and one missense mutation (F1795C) previously described. These results further confirm the role of OTOF gene in auditory neuropathy. In the absence of a context of neurological syndrome, the combination of absent ABR and positive OAE responses should lead to an auditory neuropathy diagnosis and to a mutational screening in OTOF.