A novel splice-site mutation c.42-2A>T (IVS1-2A>T) of SERPINC1 in a Korean family with inherited antithrombin deficiency

Blood Coagul Fibrinolysis. 2011 Dec;22(8):742-5. doi: 10.1097/MBC.0b013e32834a7e17.

Abstract

Inherited antithrombin (AT) deficiency (OMIM 107300) is an autosomal dominant disorder and causes a 20-fold increase in the risk of venous thromboembolism. Herein, we describe a case of a novel splice-site mutation in the SERPINC1 gene in a Korean patient with inherited AT deficiency. The patient was a 35-year-old woman who presented with deep vein thrombosis (DVT) and pulmonary embolism and was without a recent history of any precipitating factors. The obtaining of her family history revealed that her mother had an ischemic stroke and a pulmonary embolism and her two sisters both had an episode of DVT during pregnancy. DNA sequencing of SERPINC1 revealed the novel variant IVS1-2A>T (c.42-2A>T), a substitution in intron 1, in the proband and her daughter. The mutation IVS1-2A>T eliminates the acceptor splice-site of intron 1. The present case is the first novel splice-site mutation of SERPINC1 in a Korean family with inherited AT deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antithrombin III / genetics*
  • Antithrombin III Deficiency / complications
  • Antithrombin III Deficiency / congenital
  • Antithrombin III Deficiency / genetics*
  • Asian People / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Genes, Dominant
  • Humans
  • Introns
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Pregnancy
  • Pulmonary Embolism / complications
  • Pulmonary Embolism / genetics*
  • RNA Splice Sites
  • Republic of Korea
  • Siblings
  • Venous Thrombosis / complications
  • Venous Thrombosis / genetics*

Substances

  • RNA Splice Sites
  • SERPINC1 protein, human
  • Antithrombin III