Open AccessA novel mutation Gly222Arg in PROS1 causing protein S deficiency in a patient with pulmonary embolism
Author(s) -
Xu Jingqing,
Peng Gehong,
Ouyang Yao
Publication year - 2020
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.23111
Subject(s) - missense mutation , protein s deficiency , protein s , thrombophilia , mutation , protein c , medicine , thrombosis , pulmonary embolism , venous thrombosis , protein c deficiency , genetics , pediatrics , biology , gene
Background Thrombophilia is becoming a more frequently reported disorder these years. Hereditary protein S deficiency is one of the anticoagulant deficiencies that eventually results in thrombophilia. Case presentation A 24‐year‐old male patient was suffering from unexplained thrombosis for the second time with a family history of deep venous thrombosis. Screening tests for anticoagulant proteins found the activity of protein S markedly lowered (5.0%). The patient was discharged after anticoagulation treatment. Four years later, the review still showed the activity of protein S in his plasma decreased (16.0%). Molecular genetic analysis revealed him homozygous for a missense mutation, c.664G>A, in the exon7 of PROS1 . The mutation discovered here is the first mutation affecting the codon 222 of PROS1 . This mutation results in the replacement of the glycine at the codon 222 of protein S with arginine, leading to a reduction of protein S function. Conclusions The finding of this mutation may help with the understanding of the mechanism of protein S deficiency, especially in the Chinese population.