+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



Kidney Research and Clinical Practice 31(1): 72-75



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 058118141

Download citation: RISBibTeXText

PMID: 26889411

DOI: 10.1016/j.krcp.2011.12.003


Related references

Recurrent pulmonary embolism associated with deep venous thrombosis diagnosed as protein s deficiency owing to a novel mutation in PROS1: A case report. Medicine 97(19): E0714, 2018

One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis. American Journal of Hematology 81(10): 787-797, 2006

A case report of recurrent vascular access thrombosis in a hemodialysis patient reveals combined acquired and inherited thrombophilia. Therapeutic Apheresis and Dialysis 12(2): 190-192, 2008

Protein S deficiency with a PROS1 gene mutation in a patient presenting with mesenteric venous thrombosis following total colectomy. Blood Coagulation and Fibrinolysis 22(7): 619-621, 2012

Venous thromboembolism associated with protein S deficiency due to $$ hbox {Arg}451^{*}$$ Arg 451 mutation in Pros1 gene: a case report and a literature review. Journal of Genetics 96(6): 1047-1051, 2017

Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review. Journal of Genetics 96(6): 1047-1051, 2018

Portal-splenic-mesenteric venous thrombosis in a patients with protein S deficiency due to novel PROS1 gene mutation. Korean Journal of Gastroenterology 64(2): 110-114, 2016

A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency. Blood Coagulation and Fibrinolysis 26(2): 223-224, 2015

Inherited protein S deficiency as a result of a large duplication mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification. Journal of Thrombosis and Haemostasis 6(8): 1430-1432, 2008

Severe arterial thrombosis in a family with type III protein S deficiency caused by a frameshift mutation in the PROS1 gene. Thrombosis Research 126(2): E159-E161, 2010

A large deletion of the Pros1 gene in a deep vein thrombosis patient with protein S deficiency. Thrombosis and Haemostasis 98(10): 783-789, 2007

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency. Annals of Clinical and Laboratory Science 41(4): 397-400, 2012

First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484-->Pro, in the protein S active gene (PROS1). Thrombosis and Haemostasis 75(6): 883-886, 1996

A novel nonsense mutation in the protein C gene causing recurrent venous thrombosis. Human Genetics 91(2): 196, 1993

Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrence. Thrombosis and Haemostasis 100(4): 721-724, 2008