Identification of a novel PROS1 c.1113T-->GG frame...[Haematologica. 2006]

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

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

ten Kate MK, Mulder R, Platteel M, Brouwer JL, van der Steege G, van der Meer J.

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.

PMID: 16885060 [PubMed - indexed for MEDLINE]

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
Hum Mutat. 2000; 15(5):463-73.

[Hum Mutat. 2000]
Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
Hum Mutat. 1999; 14(1):30-9.

[Hum Mutat. 1999]
Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method.
Haemostasis. 1997 Sep-Oct; 27(5):228-36.

[Haemostasis. 1997]
ReviewMolecular basis of protein S deficiency.
Thromb Haemost. 2007 Sep; 98(3):543-56.

[Thromb Haemost. 2007]
ReviewA review of mutations causing deficiencies of antithrombin, protein C and protein S.
Thromb Haemost. 1995 Jul; 74(1):81-9.

[Thromb Haemost. 1995]
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Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.

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