Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Kasatkar, Priyanka ^a   Shetty, Shrimati ^a   Ghosh, Kanjaksha ^a  

^a KEM HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOANTIBODY; GENOMIC DNA; STOP CODON; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; ANTIBODY PRODUCTION; ARTICLE; CHILD; COHORT ANALYSIS; DNA SEQUENCE; FEMALE; FOUNDER EFFECT; GENE CONVERSION; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENOME SIZE; HUMAN; INDIAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPLICING DEFECT; VON WILLEBRAND DISEASE; BLEEDING; COMPLICATION; EXON; GENETICS; HAPLOTYPE; IMMUNOLOGY; INDIA; METABOLISM; MUTATION; PHENOTYPE; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX; STOP CODON; VON WILLEBRAND DISEASE, TYPE 3; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; EXONS; FEMALE; GENE CONVERSION; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; HAPLOTYPES; HEMORRHAGE; HUMANS; INDIA; ISOANTIBODIES; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; VON WILLEBRAND DISEASE, TYPE 3; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 84899856983     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0092575     Document Type: Article

References (33)

1. Terraube V, Donnell JS, Jenkins PV (2010) Factor VIII and von Willebrand factor interaction: biological, Clinical and therapeutic importance. Haemophilia 16: 3-13.
2. Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, et al. (2006) Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 4: 2103-2114. (Pubitemid 44403432)
3. Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, et al. (1991) Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 30: 253-269.
4. Patracchini P, Calzolari E, Aiello V, Palazzi P, Banin P, et al. (1989) Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46, X, t(X;22)(pter;q11.21) translocation. Hum Genet 83: 264-266. (Pubitemid 19250484)
5. Bowman M, Hopman W, Rapson D, Lillicrap D, James P (2010) The prevalence of symptomatic von Willebrand disease in primary care practice. J Thromb Haemost 8: 213-216.
6. Rodeghiero F, Castaman G, Dini E (1987) Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 69: 454-459. (Pubitemid 17022013)
7. Werner EJ, Broxson EH, Tucker EL, Giroux DS, Shults J, et al. (1993) Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 123: 893-898. (Pubitemid 23353251)
8. Trasi S, Shetty S, Ghosh K, Mohanty D (2005) Prevalence and spectrum of von Willebrand disease from western India. Indian J med Res 121: 653-658. (Pubitemid 40846819)
9. Gupta PK, Saxena R, Adamtziki E, Budde U, Oyen F, et al. (2008) Genetic defects in von Willebrand disease type 3 in Indian and Greek patients. Blood Cells Mol Dis 41: 219-222.
10. Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, et al. (2000) Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thromb Haemost 84: 536-540.
11. Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, et al. (2003) Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 30: 264-270. (Pubitemid 36539427)
12. Ahmad F, Budde U, Jan R, Oyen F, Kannan M, et al. (2013) Phenotypic and molecular characterisation of type 3 von Willebrand disease in a cohort of Indian patients. Thromb Haemost 109: 652-660.
13. Biss TT, Blanchette VS, Clark DS (2010) Quantitation of Bleeding Symptoms in Children with von Willebrand Disease (VWD): Use of a Standardized Pediatric Bleeding Questionnaire. J Thromb Haemost 8: 950-956.
14. Bowman M, Mundell G, Grabell J, Hopman WM, Rapson D, et al. (2008) Generation and Validation of the Condensed MCMDM1-VWD Bleeding Questionnaire. J Thromb Haemost 6: 2062-2066.
15. Kasatkar P, Ghosh K, Shetty S (2014) An atypical manifestation of acquired von Willebrand syndrome (AVWS) associated with systemic lupus erythematosus (SLE). Ann Hematol 93:173-175.
16. Kasatkar P, Shetty S, Ghosh K (2010) VWF pseudogene: Mimics, masks and spoils. Clin Chim Acta 411: 607-609.
17. Trasi S, Mohanty D, Pathare A, Shetty S, Ghosh K (2006) von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population. Acta Haematol 115: 64-67. (Pubitemid 43130435)
18. Kasatkar P, Ghosh K, Shetty S (2013) The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles: a rebuttal. J Thromb Haemost 11:1784-1785.
19. Schneppenheim R, Krey S, Gergmann F, Bock D, Budde U, et al. (1994) Genetic heterogeneity of severe von Willebrand disease type III in German population. Hum Genet 94: 640-652. (Pubitemid 24351522)
20. Zhang ZP, Lindstedt M, Falk G, Blombäck M, Egberg N, et al. (1992) Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 51:850-858.
21. Bahnak BR, Lavergne JM, Rothschild C, Meyer D (1991) A stop codon in a patient with severe Type III von Willebrand disease. Blood 78:1148-1149.
22. Corrales I, Ramirez L, Altisent C, Parra R, Vidal F (2009) Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost 101: 570-576.
23. Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F (1998) Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 79: 709-717. (Pubitemid 28163840)
24. Gupta PK, Adamtziki E, Budde U, Jaiprakash M, Kumar H, et al. (2005) Gene conversions are a common cause of von Willebrand disease. Br J Haematol 130: 752-758. (Pubitemid 43906648)
25. Surdhar GK, Enayat MS, Lawson S,Williams MD, Hill FG (2001) Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development. Blood 98: 248-250.
26. Casaña P, Martínez F, Haya S, Lorenzo JI, Espinós C, et al. (2000) Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. Br J Haematol 111: 552-555.
27. Mohl A, Marschalek R, Masszi T, Nagy E, Obser T, et al. (2008) An Alumediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary. J Thromb Haemost 6: 1729-1735.
28. Xie F, Wang X, Cooper DN, Chuzhanova N, Fang Y, et al. (2006) A novel Alumediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions. Blood Cells Mol Dis 36: 385-391. (Pubitemid 43776193)
29. Ahmad F, Jan R, Kannan M, Obser T, Hassan MI, et al. (2013) Characterisation of mutations and molecular studies of type 2 von Willebrand disease. Thromb Haemost 109: 39-46.
30. Shahbazi S, Mahdian R, Ala FA, Lavergne JM, Denis CV, et al. (2009) Molecular characterization of Iranian patients with type 3 von Willebrand disease. Haemophilia 15:1058-1064.
31. Solimando M, Baronciani L, La Marca S, Cozzi G, Asselta R, et al. (2012) Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients. Am J Hematol 87: 870-874.
32. Corrales I, Catarino S, Ayats J, Arteta D, Altisent C, et al. (2012) Highthroughput molecular diagnosis of von Willebrand disease by next generation sequencing methods. Haematologica 97:1003-1007.
33. Yadegari H, Driesen J, Pavlova A, Biswas A, Hertfelder HJ, et al. (2012) Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. Thromb Haemost 108: 662-671.