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Identification of a His54Gln substitution in von Willebrand factor from a patient with defective binding of factor VIII

โœ Scribed by Rick, Margaret E.; Krizek, Dennis M.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
468 KB
Volume
51
Category
Article
ISSN
0361-8609

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โœฆ Synopsis

A patient with type 2N ("Normandy" variant) von Willebrands disease is described. Her von Willebrand factor level was borderline low, while her factor Vlll was markedly decreased to 7%. Her plasma von Wlliebrand factor demonstrated a decreased ability to complex with factor Vlll In vitro, binding less than 10% when compared to normal plasma von Willebrand factor. The factor Vlll released Into the circulation after the patient received DDAVP had a shortened survival in vivo. Nucleotide sequence analysis revealed a T-to-A transition at nucleotlde 2451 on both alleles. This transition results in a substitution of Gln for HIS at amino acid 54 in the mature subunit of von Willebrand factor.

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