Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal dominant protein S deficiency

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.

Classification

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]

Diagnosis

When measuring plasma concentration, warfarin and other vitamin K antagonists have to be discontinued sufficiently enough.

Systematic

Thromboembolic diseases
Autosomal dominant protein C deficiency
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
Autosomal recessive protein S deficiency
F2
F5
Factor XII deficiency
HABP2
Hypoplasminogenemia
MTHFR
PAI transcription modulator
Protein Z deficiency
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
VKORC1

References:

1.

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.

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2.

Makris M et al. (2000) Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.

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3.

Phillips WG et al. (1992) Purpura fulminans due to protein S deficiency following chickenpox.

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4.

Maillard C et al. (1992) Protein-S, a vitamin K-dependent protein, is a bone matrix component synthesized and secreted by osteoblasts.

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5.

Clark DA et al. (1991) Mesenteric vein thrombosis associated with a familial deficiency of free protein S.

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6.

Pintao MC et al. (2009) Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.

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7.

Leung TW et al. (2010) Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.

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8.

Pan EY et al. (1990) Bone mineral density and its association with inherited protein S deficiency.

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9.

Golub BM et al. (1990) Protein S deficiency associated with central retinal artery occlusion.

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10.

Girolami A et al. (1990) Heterozygous protein-S deficiency: a study of a large kindred.

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11.

Allaart CF et al. (1990) Hereditary protein S deficiency in young adults with arterial occlusive disease.

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12.

Mannucci PM et al. (1989) Familial dysfunction of protein S.

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13.

Sacco RL et al. (1989) Free protein S deficiency: a possible association with cerebrovascular occlusion.

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14.

Chafa O et al. (1989) A new case of 'type II' inherited protein S deficiency.

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15.

Sas G et al. (1985) A protein S deficient family with portal vein thrombosis.

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16.

Engesser L et al. (1987) Hereditary protein S deficiency: clinical manifestations.

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17.

Schwarz HP et al. (1984) Plasma protein S deficiency in familial thrombotic disease.

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18.

Comp PC et al. (1984) Recurrent venous thromboembolism in patients with a partial deficiency of protein S.

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19.

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.

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20.

Zöller B et al. (1995) Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease.

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21.

Köller H et al. (1994) Deficiency of both protein C and protein S in a family with ischemic strokes in young adults.

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22.

Malnick SD et al. (1993) Autoimmune protein S deficiency.

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23.

D'Angelo A et al. (1993) Brief report: autoimmune protein S deficiency in a boy with severe thromboembolic disease.

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Update: Sept. 26, 2018