Characterisation of mutations and molecular studies of type 2 von Willebrand disease

Thrombosis and Haemostasis

Volumn 109, Issue 1, 2013, Pages 39-46

  Ahmad, Firdos ^a,d   Jan, Rifat ^a   Kannan, Meganathan ^a   Obser, Tobias ^c   Hassan, Md Imtaiyaz ^b   Oyen, Florian ^c   Budde, Ulrich ^e   Saxena, Renu ^a   Schneppenheim, Reinhard ^c  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e ASKLEPIOS KLINIK ALTONA   (Germany)

Author keywords

Gene conversion; In vitro expression; Molecular modelling; Phenotype genotype; Type 2 VWD mutation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GAIN OF FUNCTION MUTATION; GENE CONVERSION; GENE MUTATION; GENOTYPE; HUMAN; INFANT; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SCHOOL CHILD; VON WILLEBRAND DISEASE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE CONVERSION; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HETEROZYGOTE; HUMANS; HYDROGEN BONDING; INFANT; MALE; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; STRUCTURE-ACTIVITY RELATIONSHIP; TRANSFECTION; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 84872253535     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-07-0475     Document Type: Article

References (27)

1. Sadler JE, Mannucci PM, Berntorp E, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84: 160-174.
2. Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 1993; 123: 893-898.
3. Ahmad F, Kannan M, Ranjan R, et al. Inherited platelet function disorders versus other inherited bleeding disorders: an Indian overview. Thromb Res 2008; 121: 835-841.
4. Budde U. Diagnosis of von Willebrand disease subtypes: implications for treatment. Haemophilia 2008; 14 (Suppl 5): 27-38.
5. Emsley J, Cruz M, Handin R, et al. Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib. J Biol Chem 1998; 273: 10396-10401.
6. Zhang Q, Zhou YF, Zhang CZ, et al. Structural specializations of A2, a forcesensing domain in the ultralarge vascular protein von Willebrand factor. Proc Natl Acad Sci USA 2009; 106: 9226-9231.
7. Matsushita T, Sadler JE. Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor. J Biol Chem 1995; 270: 13406-13414.
8. Stepanian A, Ribba AS, Lavergne JM, et al. A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease. Br J Haematol 2003; 120: 643-651.
9. Sutherland JJ, O'Brien LA, Lillicrap D, et al. Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. J Mol Model 2004; 10: 259-270.
10. Kannan M, Ahmad F, Yadav BK, et al. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. J Thromb Haemost 2009; 7: 1878-1885.
11. Ahmad F, Kannan M, Biswas A, et al. Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease. Ann Hematol 2009; 88: 479-483.
12. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-1143.
13. Schneppenheim R, Plendl H, Budde U. Luminography--an alternative assay for detection of von Willebrand factor multimers. Thromb Haemost 1988; 60: 133-136.
14. Budde U, Schneppenheim R, Eikenboom J, et al. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost 2008; 6: 762-771.
15. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a Laboratory Manual. Cold Spring Harbor NY 1989 (Cold Spring Harbor Laboratory).
16. Gupta PK, Adamtziki E, Budde U, et al. Gene conversions are a common cause of von Willebrand disease. Br J Haematol 2005; 130: 752-758.
17. Emsley P, Cowtan K. Coot: model-building tools for molecular graphics. Acta Crystallogr D Biol Crystallogr 2004; 60: 2126-2132.
18. Zhou AQ, O'Hern CS, Regan L. Revisiting the Ramachandran plot from a new angle. Protein Sci 2011; 20: 1166-1171.
19. Lill MA, Danielson ML. Computer-aided drug design platform using PyMOL. J Comput Aided Mol Des 2011; 25: 13-19.
20. Cheng J, Randall A, Baldi P. Prediction of protein stability changes for single-site mutations using support vector machines. Proteins 2006; 62: 1125-1132.
21. Schneppenheim R, Federici AB, Budde U, et al. Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. Thromb Haemost 2000; 83: 136-140.
22. Lavergne JM, De Paillette L, Bahnak BR, et al. Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. Br J Haematol 1992; 82: 66-72.
23. O'Brien LA, Sutherland JJ, Weaver DF, et al. Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations. J Thromb Haemost 2005; 3: 796-797.
24. Ruggeri ZM. Type IIB von Willebrand disease: a paradox explains how von Willebrand factor works. J Thromb Haemost 2004; 2: 2-6.
25. Ruggeri ZM, Zimmerman TS. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980; 65: 1318-1325.
26. Kroner PA, Friedman KD, Valentino LA, et al. Type 2 M von Willebrand disease due to linked P1266Q and V1279I substitutions in the von Willebrand factor A1 domain. J Thromb Haemost 2003; 1: OC351a.
27. Auton M, Sedlak E, Marek J, et al. Changes in thermodynamic stability of von Willebrand factor differentially affect the force-dependent binding to platelet GPIbalpha. Biophys J 2009; 97: 618-627.