کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4114234 | 1606058 | 2010 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Five new OTOF gene mutations and auditory neuropathy Five new OTOF gene mutations and auditory neuropathy](/preview/png/4114234.png)
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.
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 74, Issue 5, May 2010, Pages 494–498