title: Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report.
abstract: Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The authors report a case of inherited protein S deficiency associated with vascular access thrombotic events. DNA sequence analysis of the PROS1 gene identified a novel heterozygous nonsense mutation in exon 10 by transition of AAG (lysine) to TAG (stop codon) at codon 473 (c.1417A>T, p.K473X). Results from the study suggest that the inherited protein S deficiency due to a PROS1 gene mutation may cause vascular access thrombosis in hemodialysis patients.
authors.affiliation: Department of Internal Medicine, Seoul National University Hospital, Korea.
authors.forename: Eun Jin
authors.initials: EJ
authors.lastname: Cho
authors.affiliation: Department of Internal Medicine, Seoul National University Hospital, Korea.
authors.forename: Yong Chul
authors.initials: YC
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University Hospital, Korea.
authors.forename: Jin Ho
authors.initials: JH
authors.lastname: Hwang
authors.affiliation: Department of Internal Medicine, Seoul National University Hospital, Korea.
authors.forename: Hajung
authors.initials: H
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.affiliation: Department of Laboratory Medicine, National Medical Center, Korea.
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University Hospital, Korea.
authors.forename: Suhnggwon
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Ho Jun
authors.initials: HJ
authors.lastname: Chin
keywords: PROS1; Protein S deficiency; Thrombosis