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Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib
alpha gene associated with a hyperactive surface receptor
SD Russell and GJ Roth
Hematology Section, Seattle Veterans Hospital, WA.
Pseudo (platelet-type)-von Willebrand disease is an autosomal dominant
bleeding disorder caused by the hyperfunction of a receptor on the platelet
surface. The abnormal receptor, glycoprotein Ib, displays increased
affinity for its ligand, von Willebrand factor. Four members (normal
mother/affected father/two affected daughters) of a family with pseudo-von
Willebrand disease were studied to determine the molecular genetic basis
for their congenital platelet defect. Segments of the platelet glycoprotein
Ib alpha gene were amplified by means of the polymerase chain reaction,
cloned, and sequenced. A point mutation (A to G, codon 239) was found in
segments from the affected individuals but not from the normal. The
mutation results in a single amino acid substitution (valine-mutant for
methionine-normal) at residue 239 within the Ib alpha binding site for von
Willebrand factor. Both the mutant and the normal sequence were found in
affected individuals, suggesting a heterozygous state. Amplified DNA from
family members and from 58 normal individuals was analyzed by
allele-specific oligonucleotide hybridization. Only the normal sequence was
found in the mother and the normal individuals, whereas both the normal and
the mutant alleles were found in the affected family members. The described
mutation is associated with the pseudo-von Willebrand disease phenotype
seen in this kindred. The resultant single amino acid substitution in
glycoprotein Ib alpha relates to increased receptor function and to
excessive binding of von Willebrand factor to the platelet surface.
Volume 81,
Issue 7,
pp. 1787-1791,
04/01/1993
Copyright © 1993 by The American Society of Hematology
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