Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation.
A 60-year-old Italian woman presenting with factor VLeiden 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 FVLeiden mutation and rescues the APC-resistance phenotype.
Asselta
Rosanna
R
Bossone
Anna
A
Iannaccone
Luigi
L
Duga
Stefano
S
Brancaccio
Vincenzo
V
Margaglione
Maurizio
M
D020016:Activated Protein C Resistance / Q000209:etiology / Q000235:genetics*; D005165:Factor V; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype
C095381:factor V Leiden; D005165:Factor V