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Molecular basis of protein S deficiency in three families also showing
independent inheritance of factor V leiden
NJ Beauchamp, ME Daly, PC Cooper, M Makris, FE Preston and IR Peake
Department of Medicine and Pharmacology, Royal Hallamshire Hospital,
Sheffield, UK.
The molecular basis of type I or III Protein S deficiency has been
investigated in three kindred also showing independent inheritance of
factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was
identified in the propositi and shown to segregate with protein S
deficiency in all but one of the affected members of two kindred. This
individual was heterozygous for a second transition (C to T) causing
substitution of serine 624 by leucine. A second member of the same family,
with markedly reduced free protein S levels when compared with affected
relatives, was heterozygous for both mutations. Haplotype analysis of
individuals with the mutated ATG570ACG allele in the two kindred suggested
they may have been related by a common ancestor. A G to A transition
resulting in substitution of cysteine 145 by tyrosine was detected in the
third kindred. All mutations are believed to interfere with protein S
binding to C4b-binding protein resulting in reduced free protein S levels.
Of the five individuals studied who had experienced thrombotic events,
three had combined protein S deficiency and FV Leiden reemphasising the
importance of FV Leiden as an additional risk factor for thrombosis in
protein S deficiency.
Volume 88,
Issue 5,
pp. 1700-1707,
09/01/1996
Copyright © 1996 by The American Society of Hematology
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