Peng Yu, Wang Tun, Zheng Yu, Lian Aojie, Zhang Di, Xiong Zhimin, Hu Zhengmao, Xia Kun, Shu Chang
Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, Changsha.
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University.
Medicine (Baltimore). 2019 Jan;98(1):e13999. doi: 10.1097/MD.0000000000013999.
Deep vein thrombosis (DVT) is the formation of a blood clot formed in the deep veins of the lower limbs. Known genetic factors of DVT include deficiencies of antithrombin (AT), protein C, protein S, factor V Leiden mutation, and prothrombin G20210A mutation. Here, a 5-generation Chinese family with inherited DVT was recruited for genetic analysis.
The patient came to see a doctor because of leg swelling. A color Doppler ultrasound examination showed extensive thrombosis within the deep veins of her left leg. Computed tomography angiography showed a pulmonary embolism in her right lower pulmonary artery.
Type II AT deficiency lead to inherited DVT.
Whole-exome sequencing and cosegregation analysis were carried for the DVT family.
An unreported heterozygous missense variation, c.281T>C, was identified within the SERPINC1 gene. This missense variation of SERPINC1 leads to type II AT deficiency.
This result further enriched the variation spectrum of the SERPINC1 gene.
深静脉血栓形成（DVT）是指在下肢深静脉中形成的血凝块。已知的DVT遗传因素包括抗凝血酶（AT）、蛋白C、蛋白S缺乏，因子V莱顿突变和凝血酶原G20210A突变。在此，招募了一个患有遗传性DVT的五代中国家系进行遗传分析。
患者因腿部肿胀前来就医。彩色多普勒超声检查显示其左腿深静脉内广泛血栓形成。计算机断层血管造影显示其右下肺动脉有肺栓塞。
II型AT缺乏导致遗传性DVT。
对该DVT家系进行全外显子组测序和共分离分析。
在SERPINC1基因中鉴定出一个未报道的杂合错义变异，c.281T>C。SERPINC1基因的这种错义变异导致II型AT缺乏。
该结果进一步丰富了SERPINC1基因的变异谱。
