F8 genetic analysis strategies when standard approaches fail

Hamostaseologie

Volumn 34, Issue 2, 2014, Pages 167-173

  Pezeshkpoor, B ^a   Pavlova, A ^a   Oldenburg, J ^a   El Maarri, O ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Extended diagnostic flowchart; Haemophilia A; Mutation negative patients

Indexed keywords

BLOOD CLOTTING FACTOR 8; F8 PROTEIN, HUMAN; GENETIC MARKER;

CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EXON; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HEMOPHILIA A; HUMAN; INTRON; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; REVIEW; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM;

FACTOR VIII; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEMOPHILIA A; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84901494547     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.5482/HAMO-13-08-0043     Document Type: Review

References (81)

1. Mannucci PM, Tuddenham EG. The haemophilias--from royal genes to gene therapy. N Engl J Med 2001; 344: 1773-1779.
2. Antonarakis SE. Molecular genetics of coagulation factor VIII gene and haemophilia A. Thromb Haemost 1995; 74: 322-328.
3. Pavlova A, Brondke H, Musebeck J et al. Molecular mechanisms underlying haemophilia A phenotype in seven females. J Thromb Haemost 2009; 7: 976-982.
4. Martin-Salces M, Vencesla A, Alvarez-Roman MT et al. Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser. Thromb Haemost 2010; 104: 718-723.
5. Nair PS, Shetty S, Ghosh K. A homozygous female haemophilia A. Indian J Hum Genet 2012; 18: 134-136.
6. Miesbach W, Alesci S, Geisen C, Oldenburg J. Association between phenotype and genotype in carriers of haemophilia A. Haemophilia 2011; 17: 246-251.
7. Bicocchi MP, Migeon BR, Pasino M et al. Familial nonrandom inactivation linked to the X inactivation centre in heterozygotes manifesting haemophilia A. Eur J Hum Genet 2005; 13: 635-640.
8. Knobe KE, Sjorin E, Soller MJ et al. Female haemophilia A caused by skewed X inactivation. Haemophilia 2008; 14: 846-848.
9. Schwaab R, Oldenburg J, Higuchi M et al. Haemophilia A: carrier detection by DNA analysis. Blut 1988; 57: 85-90.
10. Schwaab R, Oldenburg J, Brackmann HH, Hanfland P. Haemophilia A: molecular biology and carrier diagnosis. Infusionsther Transfusionsmed 1994; 21: 116-125.
11. Schwaab R, Ludwig M, Oldenburg J et al. Identical point mutations in the factor VIII gene that have different clinical manifestations of haemophilia A. Am J Hum Genet 1990; 47: 743-754.
12. Schwaab R, Oldenburg J, Tuddenham EG et al. Mutations in haemophilia A. Br J Haematol 1993; 83: 450-458.
13. Schwaab R, Oldenburg J, Schwaab U et al. Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995; 91: 458-464.
14. Becker J, Schwaab R, Moller-Taube A et al. Characterization of the factor VIII defect in 147 patients with sporadic haemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-670.
15. Oldenburg J, Grimm T, Becker J et al. Mutations in severe haemophilia A: distribution within the factor VIII gene, origin and influence on inhibitor development. Beitr Infusionsther Transfusionsmed 1997; 34: 224-230.
16. Oldenburg J, Pavlova A. Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 2006; 12 (Suppl 6): 15-22.
17. Gouw SC, van den Berg HM, Oldenburg J et al. F8 gene mutation type and inhibitor development in patients with severe haemophilia A: systematic review and meta-analysis. Blood 2012; 119: 2922-2934.
18. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-174.
19. Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 11-17.
20. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
21. Higuchi M, Antonarakis SE, Kasch L et al. Molecular characterization of mild-to-moderate haemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 1991; 88: 8307-8311.
22. Oldenburg J, Schroder J, Schmitt C et al. Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype. Thromb Haemost 1998; 79: 452-453.
23. Oldenburg J, El-Maarri O. New insight into the molecular basis of haemophilia A. Int J Hematol 2006; 83: 96-102.
24. Piedras J, Sanchez-Montero PE, Herrera FM et al. Effect of plasma freezing temperature, anticoagulant and time of storage on factor VIII:C activity in cryoprecipitate. Arch Med Res 1993; 24: 23-26.
25. Pavlova A, Delev D, Pahl S et al. Molecular genetic background of haemophilia A patients with discrepancy between one-stage and two-stage factor VIII assays. Hamostaseologie 2010; 30 (Suppl 1): S153-S155.
26. Bowyer AE, van Veen JJ, Goodeve A et al. Specific and global coagulation assays in the diagnosis of discrepant mild haemophilia A. Haematologica 2013; DOI: 10.3324/haematol.2013.088088.
27. Rost S, Loffler S, Pavlova A et al. Detection of large duplications within the factor VIII gene by MLPA. J Thromb Haemost 2008; 6: 1996-1999.
28. Zimmermann MA, Oldenburg J, Muller CR, Rost S. Characterization of duplication breakpoints in the factor VIII gene. J Thromb Haemost 2010; 8: 2696-2704.
29. Uen C, Oldenburg J, Schroder J et al. 2% Haemophilia A patients without mutation in the FVIII gene. Hämostaseologie 2003; 23: 1-5.
30. El-Maarri O, Herbiniaux U, Graw J et al. Analysis of mRNA in haemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J Thromb Haemost 2005; 3: 332-339.
31. Zhang B, Cunningham MA, Nichols WC et al. Bleeding due to disruption of a cargo-specific ERto-Golgi transport complex. Nat Genet 2003; 34: 220-225.
32. Zhang B, McGee B, Yamaoka JS et al. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006; 107: 1903-1907.
33. Castaman G, Federici AB, Rodeghiero F, Mannucci PM. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica 2003; 88: 94-108.
34. Eikenboom JC, Castaman G, Kamphuisen PW et al. The factor VIII/von Willebrand factor ratio discriminates between reduced synthesis and increased clearance of von Willebrand factor. Thromb Haemost 2002; 87: 252-257.
35. Federici AB. The factor VIII/von Willebrand factor complex: basic and clinical issues. Haematologica 2003; 88: EREP02.
36. Nichols WC, Seligsohn U, Zivelin A et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61-70.
37. Schneppenheim R, Budde U, Krey S et al. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996; 76: 598-602.
38. Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Haemophilia 2008; 14: 1201-1208.
39. Keeney S, Bowen D, Cumming A et al. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia 2008; 14: 1099-1111.
40. Viel KR, Machiah DK, Warren DM et al. A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels. Blood 2007; 109: 3713-3724.
41. Green D, Ruth KJ, Folsom AR, Liu K. Hemostatic factors in the Coronary Artery Risk Development in Young Adults (CARDIA) Study. Arterioscler Thromb 1994; 14: 686-693.
42. McCallum CJ, Peake IR, Newcombe RG, Bloom AL. Factor VIII levels and blood group antigens. Thromb Haemost 1983; 50: 757.
43. Smith NL, Chen MH, Dehghan A et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation 2010; 121: 1382-1392.
44. Antoni G, Oudot-Mellakh T, Dimitromanolakis A et al. Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels. BMC Med Genet 2011; 12: 102.
45. Hallden C, Knobe KE, Sjorin E et al. Investigation of disease-associated factors in haemophilia A patients without detectable mutations. Haemophilia 2012; 18: e132-e137.
46. Pezeshkpoor B, Zimmer N, Marquardt N et al. Deep intronic 'mutations' cause haemophilia A: application of next generation sequencing in patients without detectable mutation in F8 cDNA. J Thromb Haemost 2013; 11: 1679-1687.
47. Sheen CR, Jewell UR, Morris CM et al. Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication. Hum Mutat 2007; 28: 1198-1206.
48. Van de Water N, Williams R, Ockelford P, Browett P. A 20.7 kb deletion within the factor VIII gene associated with LINE-1 element insertion. Thromb Haemost 1998; 79: 938-942.
49. Tavassoli K, Eigel A, Horst J. A deletion/insertion leading to the generation of a direct repeat as a result of slipped mispairing and intragenic recombination in the factor VIII gene. Hum Genet 1999; 104: 435-437.
50. Castaman G, Giacomelli SH, Mancuso ME et al. Deep intronic variations may cause mild haemophilia A. J Thromb Haemost 2011; 9: 1541-1548.
51. Vidal F, Farssac E, Tusell J et al. First molecular characterization of an unequal homologous alumediated recombination event responsible for haemophilia. Thromb Haemost 2002; 88: 12-16.
52. Pezeshkpoor B, Rost S, Oldenburg J, El-Maarri O. Identification of a third rearrangement at Xq28 that causes severe haemophilia A as a result of homologous recombination between inverted repeats. J Thromb Haemost 2012; 10: 1600-1608.
53. Schroder W, Poetsch M, Gazda H et al. A de novo translocation 46,X,t(X;15) causing haemophilia B in a girl: a case report. Br J Haematol 1998; 100: 750-757.
54. Krepischi-Santos AC, Carneiro JD, Svartman M et al. Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemo-philia B. Br J Haematol 2001; 113: 616-620.
55. Di Paola J, Goldman T, Qian Q et al. Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe haemophilia B maps proximal to the factor IX gene. J Thromb Haemost 2004; 2: 437-440.
56. Kearney L. Molecular cytogenetics. Best Pract Res Clin Haematol 2001; 14: 645-669.
57. Pinkel D, Segraves R, Sudar D et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-211.
58. Aradhya S, Manning MA, Splendore A, Cherry AM. Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet A 2007; 143A: 1431-1441.
59. Evangelidou P, Alexandrou A, MoutafiM et al. Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature. Biomed Res Int 2013; 2013: 346762.
60. Rost S, Aumann V, Nanda I et al. Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene-a case report. Haemophilia 2013; 19: e310-e313.
61. Giardino D, Corti C, Ballarati L et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn 2009; 29: 257-265.
62. Acquila M, Pasino M, Di Duca M et al. MLPA assay in F8 gene mutation screening. Haemophilia 2008; 14: 625-627.
63. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Genotyping the haemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 1154-1158.
64. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Developing a new generation of tests for genotyping haemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 2008; 6: 830-836.
65. Dehainault C, Michaux D, Pages-Berhouet S et al. A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation. Eur J Hum Genet 2007; 15: 473-477.
66. Anczukow O, Buisson M, Leone M et al. BRCA2 deep intronic mutation causing activation of a cryptic exon: opening toward a new preventive therapeutic strategy. Clin Cancer Res 2012; 18: 4903-4909.
67. Vache C, Besnard T, le Berre P et al. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat 2012; 33: 104-108.
68. El-Maarri O, Singer H, Klein C et al. Lack of F8 mRNA: a novel mechanism leading to haemophilia A. Blood 2006; 107: 2759-2765.
69. Castaman G, Giacomelli SH, Mancuso ME et al. F8 mRNA studies in haemophilia A patients with different splice site mutations. Haemophilia 2010; 16: 786-790.
70. Zimmermann MA, Gehrig A, Oldenburg J et al. Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations. Haemophilia 2013; 19: 310-317.
71. Inaba H, Koyama T, Shinozawa K et al. Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A. Haemophilia 2012; 19: 100-105.
72. Holbrook JA, Neu-Yilik G, Hentze MW, Kulozik AE. Nonsense-mediated decay approaches the clinic. Nat Genet 2004; 36: 801-808.
73. Bagnall RD, Waseem NH, Green PM et al. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. Br J Haematol 1999; 107: 766-771.
74. Bakker E, Van Broeckhoven C, Bonten EJ et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 1987; 329: 554-556.
75. Higuchi M, Kochhan L, Olek K. A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med 1988; 5: 23-27.
76. Maddalena A, Sosnoski DM, Berry GT, Nussbaum RL. Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency. N Engl J Med 1988; 319: 999-1003.
77. Oldenburg J, Rost S, El-Maarri O et al. De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 2000; 96: 2905-2906.
78. Leuer M, Oldenburg J, Lavergne JM et al. Somatic mosaicism in haemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75-87.
79. Lenting PJ, CJ VANS, Denis CV. Clearance mechanisms of von Willebrand factor and factor VIII. J Thromb Haemost 2007; 5: 1353-1360.
80. Rydz N, Swystun LL, Notley C et al. The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels. Blood 2013; 121: 5228-5237.
81. Li XG, Liu DP, Liang CC. Beyond the locus control region: new light on beta-globin locus regulation. Int J Biochem Cell Biol 2001; 33: 914-923.