title: A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.
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.
authors.affiliation: aDepartment of Laboratory Medicine and Genetics bDivision of Cardiology, Department of Medicine cCardiac & Vascular Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea *Duk-Kyung Kim and Hee-Jin Kim contributed equally to the writing of this article.
authors.forename: Mi-Ae
authors.initials: MA
authors.lastname: Jang
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Kim
authors.forename: Duk-Kyung
authors.initials: DK
authors.lastname: Kim
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
mesh_terms: D001798:Blood Proteins / Q000235:genetics*; D002908:Chronic Disease; D018389:Codon, Nonsense; D006801:Humans; D008297:Male; D008875:Middle Aged; D017293:Protein S; D018455:Protein S Deficiency / Q000097:blood / Q000235:genetics*; D011655:Pulmonary Embolism / Q000097:blood / Q000235:genetics; D020246:Venous Thrombosis / Q000097:blood / Q000235:genetics
chemical_list: D001798:Blood Proteins; D018389:Codon, Nonsense; C523390:PROS1 protein, human; D017293:Protein S