A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency

作者：Wang, Yanming; Ma, Junjie; Liu, Xinguang; Wang, Yan; Wang, Hui; Wang, Li; Ding, Qiulan; Chu, Xiaoxia; Hou, Ming^*

来源：International Journal of Clinical and Experimental Medicine, 2015, 8(6): 10095-10098.

• FX deficiency
• FXD
• gene mutation
• coagulation disorder

FX is a vitamin K-dependent coagulation protease critically essential for the coagulation cascade. FXD (congenital deficiency of factor X) is a rare coagulation disorder that inherited as an autosomal recessive trait. Here we reported a patient with bleeding diathesis from infant. The proband with pseudotumor in cerebral articular and cavity were identified as encapsulated hematocele ultimately. FX sequence analysis revealed that the patient carried a novel homozygous missense mutation that resulted in the Val384Ala substitution. Further investigation of the novel mutation would deepen our understanding of the bleeding mechanism involved in FXD.

• 出版日期2015
• 单位山东大学; 上海交通大学; 烟台毓璜顶医院; 上海市闵行区中心医院