TNC gene mutation: A possible rare cause for juvenile sensorineural hearing impairment
DOI:
https://doi.org/10.34631/sporl.678Keywords:
tenascina-C, gene TNC, surdez neurossensorialAbstract
Introdução: Os autores pretendem destacar a importância de um estudo completo e exaustivo visando identificar a causa de casos de surdez isolada em doentes jovens, mesmo na ausência de história familiar.
Descrição de caso: Doente de 20 anos do sexo feminino que se apresenta com um quadro de hipoacusia bilateral progressiva com seis meses de evolução. No exame físico, a otoscopia, a acumetria e o exame vestibular eram normais. A audiometria confirmou surdez neurossensorial bilateral com curva tonal plana, mas as latências e as amplitudes das ondas dos potenciais evocados auditivos do tronco cerebral e a ressonância magnética cerebral foram normais. O estudo genético revelou uma mutação no gene TNC.
Discussão: O gene TNC gene codifica a tenascina-C, uma glicoproteína da matriz extracelular presente na cóclea humana. Esta proteína pode ter um papel na neosinaptogénese após lesão coclear e na homeostasia iónica. De facto, a mutação do gene TNC gene poderá ser responsável por um quadro de surdez pós-lingual autossómica dominante.
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