PROS 1 novel splice‐site variant decreases protein S expression in patients from two families with thrombotic disease

Abstract

Our results prove that c.1871‐14T>G is causative of type I PS deficiency, highlighting the importance of performing mRNA ‐based studies in order to evaluate variants pathogenicity. We evidence the increased risk of venous thromboembolism associated with this cryptic splice‐site variant if present in patients with PS deficiency.