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首页> 外文期刊>Journal of genetics >Venous thromboembolism associated with protein S deficiency due to Arg451*mutation in PROS1 gene: a case report and a literature review
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Venous thromboembolism associated with protein S deficiency due to Arg451*mutation in PROS1 gene: a case report and a literature review

机译：PROS1基因中arg451 *突变引起的静脉血栓栓塞与蛋白质S缺乏有关：案例报告和文献综述

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摘要

Protein S (PS) is a vitamin K-dependent glycoprotein which plays an important role in the regulation of blood coagulation. PS deficiency has been found in 1.5-7% of thrombophilic patients. Here, we report the first Polish case with PS deficiency caused by the p.Arg451* in the PROS1 gene detected in a 21-year-old man with trauma-induced venous thromboembolism. To our knowledge, we provided the review of all the available data on this mutation (a total of 56 cases). The proband, his mother and his sister were screened for thrombophilia. To elucidate genetic background of PS deficiency, all PROS1 genes were subjected to direct sequencing. The free PS levels were 35% in the proband, 21% in the proband's mother and 28% in the proband's sister and their PS total levels were 37.1, 47.5 and 55.1%, respectively. Type I PS deficiency was diagnosed. In all patients, genetic analysis revealed the presence of heterozygous nonsense mutation (c.1351C T; p.Arg451*) located in exon 12 of PROS1 gene. This mutation interrupts the reading frame by premature termination codon at position 451 and may lead to the production of truncated protein. The present case combined with the review of the literature suggests that p.Arg451* in the PROS1 gene mainly leads to clinically evident thrombosis following trauma, surgery or serious comorbidities especially malignancy.
机译：蛋白质S（PS）是维生素K依赖性糖蛋白，其在调节血液凝固中起重要作用。 PS缺乏已在血栓性患者的1.5-7％中发现。在这里，我们报告了第一个波兰病例，P.ARG451 *在一个具有创伤诱导的静脉血栓栓塞的21岁男性中检测到的PROF1基因中的P.ARG451 *引起的PS缺乏。为我们的知识，我们提供了对该突变的所有可用数据的审查（共56例）。证据，他的母亲和他的妹妹被筛查血栓染色体。为了阐明Ps缺陷的遗传背景，所有PROS1基因都经受直接测序。本证明书中的免费PS水平为35％，据一位母亲中，21％的母亲和28％分别为37.1,47.5和55.1％。 I型PS缺乏症被诊断出来。在所有患者中，遗传分析揭示了位于PROS1基因外显子12的杂合非突变（C.1351c＆ p.arg451 *）的存在。该突变通过在位置451处的过早终端密码子中断读取框架，并且可能导致截短蛋白质的产生。本病例与文献的审查相结合表明PROU1基因中的P.ARG451 *主要导致创伤后的临床明显的血栓形成，特别是恶性肿瘤。

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