A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms

• Published in: Genes Vol. 13; no. 5; p. 733
• Main Authors: Weronska, Anna, Potaczek, Daniel P., Oto, Julia, Medina, Pilar, Undas, Anetta, Wypasek, Ewa
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 22.04.2022; MDPI
• Subjects: Administration, Oral; Adult; Aneurysm; Aneurysm - drug therapy; Aneurysms; Anticoagulants; Anticoagulants - therapeutic use; Cardiovascular disease; Exons; Female; Hepatic artery; Humans; Laboratories; Middle Aged; Missense mutation; Mutation; Patients; Plasma; Poland; ProC gene; Protein C; Protein C - genetics; Protein C - metabolism; Protein C - therapeutic use; Protein C Deficiency - drug therapy; Protein C Deficiency - genetics; Protein deficiency; Proteins; Pulmonary embolisms; Stroke; Thromboembolism; Thrombophilia; Thrombosis; Thrombosis - genetics; Poland; United States > US; family study; protein C deficiency; gene mutations; venous thromboembolism

Objectives: Protein C (PC) deficiency is an inherited thrombophilia with a prevalence of 0.5% in the general population and 3% in subjects with a first-time deep vein thrombosis (DVT). Here we report a series of 14 PC-deficient Polish patients with comprehensive clinical and molecular characteristic...