Venous thromboembolism (VTE) is a multifactorial disease. Because low-frequency variants and rare mutations have been found to predispose carriers toward VTE, there is a need for variant discovery in clinical settings. Therefore, we used a whole-exome approach for a young VTE patient with a positive family history. We identified in the proband and his affected mother a rare, functional missense variant of prothrombin, p.Arg541Trp, which contributes to the clinical picture of VTE.

中文翻译：

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静脉血栓栓塞是由日本人的凝血酶原 p.Arg541Trp 突变引起的

静脉血栓栓塞症（VTE）是一种多因素疾病。由于已发现低频变异和罕见突变使携带者易患 VTE，因此需要在临床环境中发现变异。因此，我们对具有阳性家族史的年轻 VTE 患者使用了全外显子组方法。我们在先证者及其受影响的母亲中发现了一种罕见的功能性凝血酶原错义变体 p.Arg541Trp，它有助于 VTE 的临床表现。