Pulmonary Thromboembolism Caused by PROS1 Gene Mutation.
- Author:
Sang Chan JIN
1
Author Information
1. Department of Emergency Medicine, School of Medicine, Sungkyunkwan University Samsung Medical Center, Seoul, Korea. jchan98@hanmail.net
- Publication Type:Case Report
- Keywords:
PROS1;
Protein S deficiency;
Pulmonary embolism
- MeSH:
Adult;
Arginine;
Cystine;
Exons;
Humans;
Immobilization;
Protein S Deficiency;
Pulmonary Embolism*;
Risk Factors;
Thrombophilia
- From:Keimyung Medical Journal
2014;33(1):94-98
- CountryRepublic of Korea
- Language:Korean
-
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).
