Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.

A novel mutation in intron 3 of PROC gene has not been previously reported in patients with pulmonary embolism caused by protein C deficiency. After anticoagulation therapy, the patient recovered, and CT showed resolution of the thrombosis. Pulmonary embolism may be caused by protein C deficiency and the rare compound heterozygous mutation in intron 3 of the PROC gene could cause protein C deficiency via impairment of the secretory activity of protein C.