PDF(Pubmed)
Abstract：
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the FGG gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.
摘要：
先天性纤维蛋白原紊乱是一组由纤维蛋白原缺陷引起的凝血缺陷，分为四种类型，包括纤维蛋白原血症,低纤维蛋白原血症，纤维蛋白原异常血症，和低纤维蛋白原血症。在这项研究中,我们收集了一个患有低纤维蛋白原血症的家庭，和遗传学分析确定了一种新的致病变异(c.668G>C，p.Arg223Thr)在FGG基因中。电镜观察发现先证者纤维蛋白超微结构有明显变化。我们的研究扩展了与FGG基因相关的表型和遗传谱，这将有助于遗传咨询和产前遗传诊断。
