Autosomal dominant protein S deficiency is caused by mutations of the PROS1 gene. In contrast to the recessively inherited form the mutations are so severe such that a single mutated allele causes a thrombophilia phenotype.
Clinical chemistry allows to distinguish three types of protein S deficiency: Type 1: The protein is reduced in plasma. Type 2: The protein concentration in plasma is normal but its activity reduced. Type 3: The concentration of the free protein is reduced and this leads to a reduced plasma activity. Occasionally, a combination of type 3 and 1 or 2 can exist in one patient. The combination 1/3 is most common.[Error: Macro 'ref' doesn't exist]
When measuring plasma concentration, warfarin and other vitamin K antagonists have to be discontinued sufficiently enough.
1. |
Makris M et al. (2000) Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S. |
2. |
D'Angelo A et al. (1993) Brief report: autoimmune protein S deficiency in a boy with severe thromboembolic disease. |
3. |
Malnick SD et al. (1993) Autoimmune protein S deficiency. |
4. |
Köller H et al. (1994) Deficiency of both protein C and protein S in a family with ischemic strokes in young adults. |
6. |
Formstone CJ et al. (1995) Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. |
7. |
Comp PC et al. (1984) Recurrent venous thromboembolism in patients with a partial deficiency of protein S. |
8. |
Schwarz HP et al. (1984) Plasma protein S deficiency in familial thrombotic disease. |
9. |
Engesser L et al. (1987) Hereditary protein S deficiency: clinical manifestations. |
10. |
Sas G et al. (1985) A protein S deficient family with portal vein thrombosis. |
11. |
Chafa O et al. (1989) A new case of 'type II' inherited protein S deficiency. |
12. |
Sacco RL et al. (1989) Free protein S deficiency: a possible association with cerebrovascular occlusion. |
13. |
Mannucci PM et al. (1989) Familial dysfunction of protein S. |
14. |
Allaart CF et al. (1990) Hereditary protein S deficiency in young adults with arterial occlusive disease. |
15. |
Girolami A et al. (1990) Heterozygous protein-S deficiency: a study of a large kindred. |
16. |
Golub BM et al. (1990) Protein S deficiency associated with central retinal artery occlusion. |
17. |
Pan EY et al. (1990) Bone mineral density and its association with inherited protein S deficiency. |
18. |
Leung TW et al. (2010) Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation. |
19. |
Pintao MC et al. (2009) Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. |
20. |
Clark DA et al. (1991) Mesenteric vein thrombosis associated with a familial deficiency of free protein S. |
21. |
Maillard C et al. (1992) Protein-S, a vitamin K-dependent protein, is a bone matrix component synthesized and secreted by osteoblasts. |
22. |
Phillips WG et al. (1992) Purpura fulminans due to protein S deficiency following chickenpox. |
23. |
Espinosa-Parrilla Y et al. (1999) Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency. |
24. |
OMIM.ORG article Omim 612336 |