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Familial protein S deficiency with a variant protein S molecule in plasma
and platelets
HP Schwarz, MJ Heeb, R Lottenberg, H Roberts and JH Griffin
Department of Immunology, Research Institute of Scripps Clinic, La Jolla,
CA 92037.
A protein S deficient family presenting a variant protein S molecule in
plasma and platelets is described. The propositus, age 20, and two brothers
suffered from venous thrombotic disease. The propositus, the only family
member studied while taking oral anticoagulants, had a protein S antigen
(ag) level of 17% and undetectable activity. As demonstrated by
immunoblotting both the propositus and one clinically affected brother (42%
ag, 7% activity) presented variant protein S molecules of 65,000 molecular
weight (mol wt) while the other clinically affected brother (64% ag, 11%
activity) had only protein S with normal electrophoretic mobility of 70,000
mol wt. The mother had normal protein S levels (93% ag, 100% activity) but
had both normal and variant protein S molecules and based on her functional
protein S data a normal anticoagulant activity of the variant molecule is
suggested. One asymptomatic but protein S deficient sister (68% ag, 9%
activity) as well as the asymptomatic protein S deficient father (59% ag,
10% activity) had only protein S molecules of 70,000 mol wt. The variant
protein S bound to C4b-binding protein in plasma, and differed from normal
protein S in carbohydrate content. Platelets of each family member
contained the same immunoblotting pattern of normal and variant protein S
forms as found in plasma, consistent with the hypothesis that protein S
gene expression involves codominant expression of two alleles that is
similar in cells that control the synthesis of both platelet and plasma
forms of protein S.
Volume 74,
Issue 1,
pp. 213-221,
07/01/1989
Copyright © 1989 by The American Society of Hematology
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