TBC1D24基因的致聋机制研究进展

Research Progress on Pathogenic Mechanisms of Deafness Caused by TBC1D24 gene

TBC1D24基因编码含TBC结构域和TLDc结构域的蛋白质。该基因具有基因多效性,所涉及的基因型-表型关联复杂,不同突变可分别导致重度-极重度先天性耳聋、迟发性/渐进性耳聋等不同听力表型及在神经、骨骼等系统的不同发育障碍。在内耳中,TBC1D24表达于螺旋神经节及毛细胞静纤毛,具有特异的表达位置和表达时间。对该基因的功能学研究有助于人们了解听觉及神经系统的发育及相关遗传性疾病的分子发病机制。

TBC1D24 gene encodes a protein containing TBC domain and TLDc domain. The pleiotropic gene has a complex genotype-phenotype correlation. Different mutations result in severe-profound congenital deafness or delayed / progressive deafness and developmental disorders of nerve and/or skeletal systems. In the inner ear, TBC1D24 is expressed in the spiral ganglion and the hair cell cilia, which has the specific special and temporal expression pattern. The functional study of this gene will help us to understand the development of auditory and neural system and molecular pathogenesis of related diseases.