A patient with a history of recurrent venous thromboembolism is found to have a mutation in the PROCR gene. What is the most likely diagnosis?
Explanation
The PROCR gene encodes for protein C receptor (EPCR), but mutations affecting the level or function of protein S, which binds to and is activated by protein C, can lead to thrombophilia. However, mutations directly affecting PROCR are less common and typically related to problems with protein C activation. The most direct link to a specific gene mutation like PROCR would be issues related to its direct product or closely related proteins like Protein S in this context.
Source
OMIM (Online Mendelian Inheritance in Man) database and scientific literature on thrombophilia











