Jang Moon Ju, Lee Jeong-Guil, Chong So Young, Huh Ji Young, Jang Mi-Ae, Kim Hee-Jin, Oh Doyeun
Department of Internal Medicine, School of Medicine, CHA University, Seongnam, Gyeonggido, Korea.
Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17.
Inherited antithrombin (AT) deficiency (OMIM 107300) is an autosomal dominant disorder and causes a 20-fold increase in the risk of venous thromboembolism. Herein, we describe a case of a novel splice-site mutation in the SERPINC1 gene in a Korean patient with inherited AT deficiency. The patient was a 35-year-old woman who presented with deep vein thrombosis (DVT) and pulmonary embolism and was without a recent history of any precipitating factors. The obtaining of her family history revealed that her mother had an ischemic stroke and a pulmonary embolism and her two sisters both had an episode of DVT during pregnancy. DNA sequencing of SERPINC1 revealed the novel variant IVS1-2A>T (c.42-2A>T), a substitution in intron 1, in the proband and her daughter. The mutation IVS1-2A>T eliminates the acceptor splice-site of intron 1. The present case is the first novel splice-site mutation of SERPINC1 in a Korean family with inherited AT deficiency.
遗传性抗凝血酶（AT）缺乏症（OMIM 107300）是一种常染色体显性疾病，会使静脉血栓栓塞风险增加20倍。在此，我们描述了一名患有遗传性AT缺乏症的韩国患者，其SERPINC1基因存在一种新的剪接位点突变。该患者为一名35岁女性，出现了深静脉血栓形成（DVT）和肺栓塞，近期无任何诱发因素病史。了解其家族病史发现，她的母亲有缺血性中风和肺栓塞，她的两个姐妹在怀孕期间均有过一次DVT发作。对SERPINC1进行DNA测序发现，先证者及其女儿存在新的变异IVS1-2A>T（c.42-2A>T），这是内含子1中的一个替代。IVS1-2A>T突变消除了内含子1的受体剪接位点。本病例是韩国一个遗传性AT缺乏症家族中首次发现的SERPINC1新剪接位点突变。
