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.
- Author:
Eun Jin CHO
1
;
Yong Chul KIM
;
Jin Ho HWANG
;
Hajung LEE
;
Sung Sup PARK
;
So Yeon KIM
;
Suhnggwon KIM
;
Ho Jun CHIN
Author Information
1. Department of Internal Medicine, Seoul National University Hospital, Korea.
- Publication Type:Case Report
- Keywords:
PROS1;
Protein S deficiency;
Thrombosis
- MeSH:
Codon;
Codon, Nonsense;
Exons;
Humans;
Protein S;
Protein S Deficiency;
Renal Dialysis;
Risk Factors;
Sequence Analysis, DNA;
Thrombophilia;
Thrombosis
- From:Kidney Research and Clinical Practice
2012;31(1):72-75
- CountryRepublic of Korea
- Language:English
-
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.
