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The spectrum of genetic defects in a panel of 40 Dutch families with
symptomatic protein C deficiency type I: heterogeneity and founder effects
PH Reitsma, SR Poort, CF Allaart, E Briet and RM Bertina
Department of Hematology, University Medical Center Leiden, The
Netherlands.
Heterozygosity for protein C deficiency is associated with thromboembolic
episodes, but clinical symptoms are nonrandomly distributed among protein C
deficient families. This finding has led to the provisional definition of
clinically dominant and clinically recessive protein C deficiency. We
report here the molecular basis of hereditary, clinically dominant protein
C deficiency in a panel of 40 Dutch probands from apparently independent
families. All but one subject was a heterozygote for a point mutation in
the protein C gene. These 39 subjects shared 15 mutations, six of which
occurred in more than one proband (between two and nine). The diversity in
the 15 mutations, together with the observation that the most frequent
Dutch mutation was also found in a Swedish family with clinically recessive
protein C deficiency, makes it unlikely that the molecular basis of protein
C deficiency will be different between the clinically dominant and
recessive forms. The recurrence of one of the mutations is most likely due
to a founder effect, which suggests that when an additional hereditary
factor is involved in the clinical severity of protein C deficiency this
factor may remain linked to the protein C gene over many generations.
Volume 78,
Issue 4,
pp. 890-894,
08/15/1991
Copyright © 1991 by The American Society of Hematology
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