Study of responsible genes for cochlea and cochlear nerve dysplasia

耳蜗发育不良及其相关特征，耳蜗神经发育不良一直难以提供临床治疗，而该病的病因在很大程度上尚不清楚。我们利用下一代测序仪对与这些症状相关的家族进行了全外显子组分析，并确定了2个新的候选责任基因。在我们的免疫组化和体外研究中，一个候选基因X似乎在耳蜗神经中表达，并被认为与轴突延伸有关。另一个候选基因Y已经在小鼠模型中被证明在内耳发育中起重要作用，并且在本研究中最终被认为是导致人类耳蜗发育不良的原因。我们的研究结果扩大了我们对耳蜗和耳蜗神经发育不良的分子病理学的理解，并将导致更好的诊断和治疗的发展。

Cochlea dysplasia and the associated feature, cochlear nerve dysplasia have been difficult to provide clinical treatment, while the cause of the diseases is largely unknown. We conducted whole exome analysis of the families associated with these symptoms by Next Generation Sequencer and identified 2 novel candidate responsible genes. A candidate gene X appeared to be expressed in cochlear nerve, and was suggested to associate with neurite extension in our immunohistochemical and in vitro studies. The other candidate gene Y has already been shown to have significant role in inner ear development in mouse model, and was finally suggested to cause cochlea dysplasia in human in this study. Our results expanded our understanding of molecular pathology of cochlea and cochlear nerve dysplasia and will lead to development of better diagnosis and treatment.