کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4112011 | 1606008 | 2014 | 6 صفحه PDF | دانلود رایگان |
ObjectivesSimilar to other zona pellucida mutations in the alpha-tectorin (TECTA) gene, the p.Y1870C alteration in DFNA8/12 causes prelingual, nonsyndromic, autosomal dominant hearing loss. Here we investigated the effect of p.Y1870C on reverse transduction by audiometric studies in the family.MethodsPure tone audiometry, brainstem evoked response audiometry, the Freiburger test for speech understanding and transient evoked and distortion product otoacoustic emissions were assessed in three available affected members bearing p.Y1870C.ResultsPure tone audiometry showed U-shaped curves with moderate to severe degrees of hearing impairment confirmed by brainstem evoked response audiometry. Transient evoked and distortion product otoacoustic emissions were completely absent in all affected family members whereas word recognition scores were up to 95%.ConclusionsAlthough the missense p.Y1870C TECTA mutation leads to complete failure of the cochlear amplifier in humans, very high speech perception scores can be achieved with appropriate therapy.
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 78, Issue 5, May 2014, Pages 837–842