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:10.1016/j.krcp.2011.12.003

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 Res Clin Pract. 2012 Mar;31(1):72-5. doi: 10.1016/j.krcp.2011.12.003. Epub 2012 Jan 18.

Authors

Eun Jin Cho¹, Yong Chul Kim¹, Jin Ho Hwang¹, Hajung Lee¹, Sung Sup Park², So Yeon Kim³, Suhnggwon Kim¹, Ho Jun Chin⁴

Affiliations

¹ Department of Internal Medicine, Seoul National University Hospital, Korea.
² Department of Laboratory Medicine, Seoul National University Hospital, Korea.
³ Department of Laboratory Medicine, National Medical Center, Korea.
⁴ Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.

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.

Keywords: PROS1; Protein S deficiency; Thrombosis.