Keimyung Med J.
2014 Jun;33(1):94-98. 10.0000/kmj.2014.33.1.94.
Pulmonary Thromboembolism Caused by PROS1 Gene Mutation
- Affiliations
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- 1Department of Emergency Medicine, School of Medicine, Sungkyunkwan University Samsung Medical Center, Seoul, Korea. jchan98@hanmail.net
- KMID: 2224209
- DOI: http://doi.org/10.0000/kmj.2014.33.1.94
Abstract
- 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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