A new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis

IF 3.7 3区医学 Q1 HEMATOLOGY

Thrombosis research Pub Date : 2025-02-01 DOI:10.1016/j.thromres.2025.109252

Jieming Huang , Yiming Li , Yueping Li , Qianwen Yu , Xiaochun Chen , Qinyong Ye , Ying Chen

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引用次数: 0

Abstract

Background

Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.

Methods

Clinical symptoms were recorded, and physical examinations conducted. Comprehensive laboratory tests included routine coagulation function tests, protein C activity, and antithrombin III levels. Advanced imaging techniques, such as magnetic resonance imaging (MRI), magnetic resonance venography (MRV), and computed tomography angiography (CTA) were employed. We also performed genetic analysis on the patient and his parents.

Results

The patient presented with headaches and paroxysmal convulsions without identifiable triggers. Physical examinations and routine coagulation tests were generally normal, except for a markedly reduced protein S activity at 21.2 %. MRI scans revealed right parietal cerebral hemorrhage and thickening of the cortical vein, characterized by high T1-weighted Imaging and low T2-weighted Imaging and Fluid-Attenuated Inversion Recovery signals. CTA and Doppler ultrasound of the lower limbs showed no abnormalities. Family history revealed that his father had suffered from multiple venous thromboses. Genetic testing identified a missense mutation (c.1912G>T p.Gly638Cys) in both the patient and his father, along with a duplication of approximately 403.6 kb on chromosome 3q26.32-33 in the patient.

Conclusions

This case highlights a novel PROS1 missense mutation and its significant role in development of cortical venous thrombosis. It provides a new insight into the genetic basis of autosomal dominant thrombophilia associated with protein S deficiency (THPH5).

查看原文本刊更多论文

一种新的遗传性PROS1基因突变引起孤立性皮质静脉血栓形成。

背景：蛋白S缺乏症是一种罕见的遗传性疾病。我们报告的情况下，一个年轻人谁意外地发展孤立的皮质静脉血栓形成（ICoVT）与一个新的PROS1突变。方法：记录临床症状，进行体格检查。综合实验室检查包括常规凝血功能检查、蛋白C活性和抗凝血酶III水平。采用先进的成像技术，如磁共振成像（MRI），磁共振静脉成像（MRV）和计算机断层血管成像（CTA）。我们还对患者及其父母进行了基因分析。结果：患者表现为头痛和阵发性惊厥，无可识别的诱因。体格检查和常规凝血试验一般正常，除了蛋白S活性明显降低21.2%。MRI扫描显示右侧顶叶脑出血和皮质静脉增厚，特征为高t1加权成像和低t2加权成像和液体衰减反转恢复信号。下肢CTA及多普勒超声未见异常。家族史显示他的父亲患有多发性静脉血栓。基因检测在患者及其父亲中发现了一个错义突变（c.1912G>T . gly638cys），以及患者染色体3q26.32-33上约403.6 kb的重复。结论：该病例强调了一种新的PROS1错义突变及其在皮质静脉血栓形成中的重要作用。它为常染色体显性血栓病与蛋白S缺乏症（THPH5）相关的遗传基础提供了新的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Thrombosis research 医学-外周血管病

CiteScore

14.60

自引率

4.00%

发文量

364

审稿时长

31 days

期刊介绍： Thrombosis Research is an international journal dedicated to the swift dissemination of new information on thrombosis, hemostasis, and vascular biology, aimed at advancing both science and clinical care. The journal publishes peer-reviewed original research, reviews, editorials, opinions, and critiques, covering both basic and clinical studies. Priority is given to research that promises novel approaches in the diagnosis, therapy, prognosis, and prevention of thrombotic and hemorrhagic diseases.