我们从一个常染色体隐性遗传性非综合征性听神经病家系中，通过全外显子组测序发现了1个新的致病基因TNN，及其两个错义突变（c.736G>A和c.2954C>T）。此家系中两名患者行人工耳蜗植入术，术后听力和言语情况良好。这表明TNN突变可导致Ⅱ型听神经病，其病变部位位于内毛细胞或带状突触。我们拟在前期研究基础上，利用斑马鱼和小鼠模型，研究TNN在内耳的表达分布，以及TNN基因突变对内毛细胞、带状突触和听觉功能的影响，采用X-射线衍射法分析TNN突变对其蛋白晶体结构的影响，并探讨其分子机制。为听神经病的遗传学检测、产前诊断及人工耳蜗植入效果评估提供理论依据。

We identified a novel causative gene TNN, from a pedigree with autosomal recessive non-syndromic Auditory neuropathy (AN) by whole-exome sequencing, with two missense mutations (c.736G > A and c.2954C> T). Two patients in this pedigree underwent cochlear implant surgery, with good postoperative hearing and speech. This suggests that TNN mutations can lead to type II AN, which lesions are located in the inner hair cells or ribbon synapses. We proposed on the basis of previous studies using zebrafish and mouse models, study the expression and distribution of TNN in the inner ear, the effects of TNN mutations on the inner hair cells and ribbon synaptic as well as auditory functions, furtherly using X-ray diffraction to analysis the crystal structure of the TNN protien, and to explore its molecular mechanism. To provide a theoretical basis for the genetic testing of AN, prenatal diagnosis and the evaluation of the effect of cochlear implant.