A novel nonsense mutation Tyr301*of <i>PROS1</i> causing protein S deficiency

초록

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. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.

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