Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency

Min Ki ten Kate; Rene Mulder; Mathieu Platteel; Jan-Leendert P Brouwer; Gerrit van der Steege; Jan van der Meer

Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency

Haematologica. 2006 Aug;91(8):1151-2.

Authors

Min Ki ten Kate, Rene Mulder, Mathieu Platteel, Jan-Leendert P Brouwer, Gerrit van der Steege, Jan van der Meer

PMID: 16885060

Abstract

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.

Publication types

Case Reports
Letter

MeSH terms

Female
Frameshift Mutation*
Humans
Male
Molecular Sequence Data
Polymerase Chain Reaction
Protein S / genetics*
Protein S Deficiency / classification
Protein S Deficiency / genetics*
Reference Values
Thromboembolism / genetics

Substances

Protein S

Associated data

GENBANK/DQ382334