细胞骨架蛋白在肌细胞和神经细胞内行使着支持细胞结构、物质运输和信号传递等功能。近年来发现细胞骨架蛋白TUBB3基因突变与非共同性斜视发病相关。我们在前期工作中，在两个共同性外斜视家系中发现细胞骨架蛋白α-actinin-2和Synemin发生突变。本项目将: 1.进一步探索我们发现的细胞骨架蛋白α-actinin-2和Synemin突变体与共同性外斜视之间的关系; 2. 探索α-actinin-2和Synemin突变对细胞骨架蛋白其他成份的影响；３. 探索α-actinin-2和Synemin突变对肌细胞结构和功能的影响；4. 探索α-actinin-2和Synemin突变对肌组织结构的影响。通过本项目研究，将可能会揭示细胞骨架蛋白突变与共同性外斜视的发病关系。

Abstrat.Cytoskeleton plays an important role in the cell structure, material trafficks and signal transmission in muscle and nerve cells. Recently, mutations in one of the cytoskeleton proteins, TUBB3, have been proved to be the underlying molecular pathogenesis of the Congenital Fibrosis of the Extraocular Muscles type 3. In our privous study, mutations in α-actinin-2 and Synemin, which are two members of the cytoskeleton protein family, were detected in two Chinese families with comitant extropia. In this project, we will explore the influence on the structure and the function of the muscle cell caused by α-actinin-2 and Synemin protein mutations; as well as the influence on the structure of the patients’ ocular muscles. In addition, we will investigate whether the cytoskeleton protein network be perturbed by the α-actinin-2 and Synemin mutations.