Teng Xin-Yi, Han Yu, Yin Li, Xu Fang-Fang, Liu Zhen-Jie
Department of Vascular Surgery, The Second Affiliated Hospital of Zhejiang University, School of Medicine.
Department of Clinical Medicine, School of Medicine, Zhejiang University.
Blood Coagul Fibrinolysis. 2020 Apr;31(3):229-232. doi: 10.1097/MBC.0000000000000893.
: Inherited antithrombin deficiency (OMIM 107300) is a rare autosomal dominant disorder that could increase the risk of venous thromboembolism and is usually caused by mutations of SERPINC1. Herein, we present a case of a novel mutation in the SERPINC1 gene in a Chinese patient. The patient was a 54-year-old man who presented with recurrent venous thromboembolism and was without a recent history of any precipitating factors. Whole exome sequencing and Sanger sequencing identified a novel heterozygous variant on exon 2 of SERPINC1 gene (c.142G>A, p.P48S).
遗传性抗凝血酶缺乏症（OMIM 107300）是一种罕见的常染色体显性疾病，可增加静脉血栓栓塞的风险，通常由SERPINC1基因突变引起。在此，我们报告一例中国患者SERPINC1基因的新型突变。该患者为一名54岁男性，表现为复发性静脉血栓栓塞，近期无任何诱发因素病史。全外显子组测序和桑格测序在SERPINC1基因第2外显子上鉴定出一个新型杂合变异（c.142G>A，p.P48S）。
