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  • Title: A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.
    Author: Jang MA, Kim SH, Kim DK, Kim HJ.
    Journal: Blood Coagul Fibrinolysis; 2015 Mar; 26(2):223-4. PubMed ID: 25255242.
    Abstract:
    Hereditary protein S deficiency is one of the natural anticoagulant deficiency causing thrombophilia. Protein S deficiency is caused by a mutation in the PROS1 gene on 3q11.2 and is typically inherited in an autosomal dominant manner. We herein describe a Korean man with protein S deficiency from a novel nonsense mutation of PROS1. The patient was a 47-year-old man with deep-vein thrombosis. No relevant family history was documented. Coagulation test results included a significantly decreased protein S activity at 30%. Molecular genetic analysis targeting PROS1 on suspicion of hereditary protein S deficiency revealed that he was heterozygous for a novel transversion mutation, c.903C>G, in the exon 9 of PROS1. The mutation was predicted to result in premature termination at the codon 301 in the laminin G-type domain (p.Tyr301) of the protein (nonsense mutation). According to a review of the literature and database, the mutation described herein is the first substitution mutation affecting the codon 301 of PROS1.
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