Mechanisms of hearing loss caused by gene mutations encoding component proteins of tectorail membrane.

感觉神经性听力损失的原因之一是内耳耳蜗组分编码蛋白的基因突变。在这项研究中，我们检查了先天性耳聋患者中基因突变的流行率和确认的基因表型相关性。在我们的研究结果中，编码覆盖膜蛋白的TECTA基因突变可能是常染色体显性遗传性听力损失的高发因素。突变筛查可以诊断覆盖膜缺陷所致听力损失的遗传原因。

One of the causes of sensory neural hearing loss is affected with genetic mutations of encoding proteins of inner ear cochlear components. In this study, we examined the prevalence of genetic mutations and confirmed genotype phenotype correlation in congenital hearing loss patients. In our results, the mutation of TECTA gene encoding tectorial membrane protein may be a high incidence in autosomal dominant hearing loss. Mutation screening can diagnose the genetic cause of hearing loss with tectorial membrane defect.