Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

Rosanna Asselta, Anna Bossone, Luigi Iannoccone, Stefano Duga, Vincenzo Brancaccio, Maurizio Margaglione

Research output: Contribution to journalArticlepeer-review

Abstract

A 60-year-old Italian woman presenting with factor V Leiden mutation but a normal activated protein C (APC) resistance, low functional and antigenic factor (FV) plasma levels, was found to have a novel heterozygous Gly2032Asp substitution located on the same allele. In transfected cells, the Gly2032Asp mutation caused an approximately 2-fold reduction of the intracellular FV protein and a 9-fold reduction of the secreted protein, suggesting that the Gly2032Asp substitution acts in cis on the allele carrying the FV Leiden mutation and rescues the APC-resistance phenotype.

Original languageEnglish
Pages (from-to)761-762
Number of pages2
JournalHaematologica
Volume89
Issue number6
Publication statusPublished - Jun 2004

Keywords

  • Activated protein C
  • Factor V Leiden
  • Mutation

ASJC Scopus subject areas

  • Hematology

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