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KMID : 0980720140330010094
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Keimyung Medical Journal
2014 Volume.33 No. 1 p.94 ~ p.98
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Pulmonary Thromboembolism Caused by PROS1 Gene Mutation
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Jin Sang-Chan
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Abstract
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Pulmonary embolism (PE) is a serious clinical problem in patients with acquired risk factor such as cancer, immobilization, recent trauma and surgery. However PE may occur in hereditary thrombophilia like protein S deficiency which is caused by PROS1 gene mutation. The author reports a case of pulmonary embolism in a 33-year-old man with protein S deficiency and PROS1 gene mutation. Genetic analysis of the patient showed mutation 1063C→T in exon 10 of PROS1 gene, resulting in a substitution of arginine by cystine at position 355 (R355C).
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KEYWORD
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PROS1, Protein S deficiency, Pulmonary embolism
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