2024 Volume 73 Issue 1 Pages 142-146
Thrombophilia has recently become a more frequently reported disorder. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia. A 49-year-old female patient was suffering from unexplained thrombosis for the second time with pulmonary thromboembolism. Screening tests for anticoagulant proteins found that the activity of protein S markedly decreased (10.0%). Molecular genetic analysis revealed a nonsense mutation, c.1009_1013delGTGA, in exon9 of PROS1. The mutation discovered here is a rare one affecting codon 337 of PROS1, which results in the replacement of valine at codon 337 of protein S with threonine, leading to a reduction in protein S function.
