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

ABSTRACT

RATIONALE Protein C is an anticoagulation agent, and protein C deficiency results in vascular thrombosis disease. Hereditary protein C deficiency is a risk factor for pulmonary embolism in adults. Pathogenic variants of the Protein C, Inactivator Of Coagulation Factors Va And VIIIa (PROC) gene which encodes protein C have been identified as a cause of protein C deficiency. PATIENT CONCERNS We describe a patient with a novel mutation in the PROC gene who was diagnosed with pulmonary embolism in a Chinese family. DIAGNOSIS According to the results of the pulmonary computed tomography angiography (CTA) and the level of blood protein C, the patient was diagnosed with pulmonary embolism caused by protein C deficiency. INTERVENTIONS: Whole-exome sequencing (WES) was performed for the molecular analysis. OUTCOME: The results of patient's deoxyribonucleic acid revealed a heterozygous mutation (c.237 + 5G > A) in intron 3 of the PROC gene. His father also harbored the same mutation in the PROC gene. We also reviewed the protein C deficiencies caused by PROC gene mutations in cases. LESSONS 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.