Keimyung Medical Journal  2014;33(1):94-98

Pulmonary Thromboembolism Caused by PROS1 Gene Mutation.

Sang Chan JIN 1

Affiliations

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Keywords

PROS1; Protein S deficiency; Pulmonary embolism

Country

Republic 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).