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  • Title: Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
    Author: ten Kate MK, Mulder R, Platteel M, Brouwer JL, van der Steege G, van der Meer J.
    Journal: Haematologica; 2006 Aug; 91(8):1151-2. PubMed ID: 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.
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