Otolaryngology Online Journal

All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Reach Us +441518081309

Case Report - Otolaryngology Online Journal (2018) Volume 8, Issue 2

TNC Gene Mutation: A Rare Cause for Early-Onset Sensorineural Hearing Loss

The authors aim to emphasize the important of a complete and exhaustive framework in order to find the cause of isolated hearing loss in an young patients, even if there is no familial history. Case Report: 20- year-old woman presented with isolated progressive bilateral hearing loss since the last six months. In the physical examination, otoscopy, acumetry and vestibular examination were normal. Audiometry confirmed bilateral hearing loss with a flat curve, but brainstem evoked response audiometry wave latencies and amplitudes and brain magnetic resonance imaging (MRI) were normal. Genetic study showed a mutation in the TNC gene. Discussion: TNC gene encodes tenascin-C, an extracellular matrix glycoprotein present in the human cochlea. This protein may have a role in the neosynaptogenesis after cochlear injury and in ionic homeostasis. In fact, TNC gene mutation causes a post-lingual autosomal dominant hearing loss."

Author(s): Pedro Carneiro de Sousa*, Ines Gamboa, Delfim Duarte and Nuno Trigueiros-Cunha

Abstract Full Text PDF

Get the App

Puretime watch review