Kidney Research and Clinical Practice (Mar 2012)

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

  • Eun Jin Cho,
  • Yong Chul Kim,
  • Jin Ho Hwang,
  • Hajung Lee,
  • Sung Sup Park,
  • So Yeon Kim,
  • Suhnggwon Kim,
  • Ho Jun Chin

DOI
https://doi.org/10.1016/j.krcp.2011.12.003
Journal volume & issue
Vol. 31, no. 1
pp. 72 – 75

Abstract

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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.

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