Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic variants of the same genetic disease. Direct sequencing analysis of the PROS1 gene was performed to establish the genotype. The ratio of protein C antigen and total PS antigen levels (protein C/S ratio) was used to classify subjects at risk of venous thromboembolism. All PS deficient subjects had increased protein C/S ratios as well as a novel PROS1 c.1113T-->GG frameshift mutation.
ten Kate
Min Ki
MK
Mulder
Rene
R
Platteel
Mathieu
M
Brouwer
Jan-Leendert P
JL
van der Steege
Gerrit
G
van der Meer
Jan
J
D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000145:classification / Q000235:genetics*; D012016:Reference Values; D013923:Thromboembolism / Q000235:genetics
D017293:Protein S