NDLI: Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A.

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Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A.

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Expression of von Willebrand factor 'Normandy': an autosomal mutation that mimics hemophilia A.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tuley, E. A. Sadler, J. E. Worrall, N. K. Gaucher, C. Jorieux, S. Mazurier, C.
Description	Author Affiliation: Tuley EA ( Howard Hughes Medical Institute, Department of Medicine, Jewish Hospital of St. Louis, Washington, University School of Medicine, MO 63110.);
Abstract	von Willebrand disease Normandy (vWD Normandy) is a recently described phenotype in which a mutant von Willebrand factor (vWF) appears structurally and functionally normal except that it does not bind to blood coagulation factor VIII. This interaction is required for normal survival of factor VIII in the circulation; consequently, vWD Normandy can present as apparent hemophilia A but with autosomal recessive rather than X chromosome-linked inheritance. A vWF missense mutation, Thr28----Met, was identified in the propositus in or near the factor VIII binding site. The corresponding mutant recombinant vWF(T28M) formed normal multimers and had normal ristocetin cofactor activity. However, vWF(T28M) exhibited the same defect in factor VIII binding as natural vWF Normandy, confirming that this mutation causes the vWD Normandy phenotype. The distinction between hemophilia A and vWD Normandy is clinically important and should be considered in families affected by apparent mild hemophilia A that fail to show strict X chromosome-linked inheritance and, particularly, in potential female carriers with low factor VIII levels attributed to extreme lyonization.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	14
Volume Number	88
Language	English
Publisher	National Academy of Sciences
Publisher Date	1991-08-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Hemophilia A Genetics Mutation Von Willebrand Factor Animals Cell Line Factor VIII Metabolism Kinetics Molecular Sequence Data Oligonucleotide Probes Phenotype Plasmids Polymerase Chain Reaction Recombinant Proteins Isolation & Purification Transfection Research Support, Non-U.S. Gov't Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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