Mutation analysis in 51 patients with haemophilia A: Report of 10 novel mutations and correlations between genotype and clinical phenotype

Haemophilia

Volumn 11, Issue 2, 2005, Pages 133-141

  Hill, Marian ^a   Deam, S ^a   Gordon, B ^a   Dolan, G ^a  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

Factor VIII; Genotype phenotype; Haemophilia A

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8C; CYTOSINE; GENOMIC DNA; GUANINE; TYROSINE; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME INVERSION; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA CONFORMATION; ENZYME IMMUNOASSAY; FAMILY STUDY; FRAMESHIFT MUTATION; GEL ELECTROPHORESIS; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE FACILITY; HEMOPHILIA A; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; FACTOR VIII; FRAMESHIFT MUTATION; GENOTYPE; HEMOPHILIA A; HUMANS; INTEINS; MALE; MUTATION; MUTATION, MISSENSE; PHENOTYPE;

EID: 16344362284     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2005.01069.x     Document Type: Article

References (48)

1. Bolton-Maggs PHB, Pasi JK. Haemophilias A and B. Lancet 2003; 361: 1801-9.
2. Wood WI, Capon DJ, Simonsen CC et al. Expression of active human factor VIII from recombinant cDNA clones. Nature 1984; 312: 330-7.
3. Saenko EL, Ananyeva NM, Tuddenham EGD, Kemball-Cook G. Factor FVIII - novel insights into form and function. Br J Haematol 2002; 119: 323-31.
4. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause for severe haemophilia A. Nat Genet 1993; 5: 236-41.
5. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
6. Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-74.
7. Liu Q, Sommer SS. Subcycling-PCR for multiplex long distance amplification of regions with high and low GC content: application to the inversion hotspot in the FVIII gene. Biotechniques 1998; 25: 1022-8.
8. Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 1993; 90: 10325-9.
9. Kemball Cook G, Tuddenham EG, Wacey AI. The factor VIII structure and mutation resource site HAMSTeRS version 4. Nucleic Acids Res 1998; 26: 216-9 (http://europium.csc.mrc.ac.uk/).
10. Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995a; 86: 2206-12.
11. Cumming AM. On behalf of the UKHCDO Haemophilia Genetics Laboratory Network. The factor FVIII intron 1 inversion mutation. Prevalence in the UK. J Thromb Haemost 2004; 2: 205-6.
12. Nakaya S, Liu ML, Thompson AR. Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A. Br J Haematol 2001; 115: 977-82.
13. Young M, Inaba H, Hoyer LW, Higuchi M, Kazazian JH Jr, Antonarakis SE. Partial correction of a severe molecular defect in haemophilia A, because of errors during expression of the factor VIII gene. Am J Hum Genet 1997; 60: 565-73.
14. Oldenburg J, Schroder J, Schmitt C, Brackmann HH, Schwaab R. Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia phenotype. Thromb Haemost 1998; 79: 452-3.
15. Antonarakis SE, Kazazian HH, Tuddenham EGD. Molecular etiology of factor VIII deficiency in haemophilia A. Hum Mutat 1995; 5: 1-22.
16. Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J. Molecular analysis of haemophilia A mutations in the Finnish population. Am J Hum Genet 1990; 46: 53-62.
17. Reiner AP, Thompson AR. Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. Hum Genet 1992; 89: 88-94.
18. Lin SW, Lin SR, Shen MC. Characterization of genetic defects of hemophilia A in patients of Chinese origin. Genomics 1993; 18 496-504.
19. Becker J, Schwaab R, Moller-Taube A et al. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996; 58: 657-70.
20. Liu ML, Murphy MEP, Thompaon AR. A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. Br J Haematol 1998; 103: 1051-60.
21. Waseem NH, Bagnall R, Green PM, Gianelli F. Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost 1999; 81: 900-5.
22. Ivaskevicius V, Jurgutis R, Rost S et al. Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. Br J Haematol 2001; 112: 1062-70.
23. Bogdanova N, Markoff A, Pollmann H et al. Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia. A Hum Mutat 2002; 20: 236-7.
24. Oldenburg J, Tuddenham E. Genetic basis of inhibitor development in severe haemophilia A and B. In: Rodriguez-Merchan EC, Lee CE, eds. Inhibitors in Patients with Haemophilia. Oxford, UK: Blackwell Publishing, 2000: 21-6.
25. Goodeve A, Peake IR. The molecular basis of haemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003; 29: 23-30.
26. Theophilus BDM, Enayat MS, Williams MD, Hill FGH. Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. Haemophilia 2001; 7: 381-91.
27. Timur AA, Gurgey A, Aktuglu G et al. Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. Haemophilia 2001; 7: 475-81.
28. Liu ML, Shen BW, Nakaya S et al. Hemophilic factor VIII C1 and C2 domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure. Blood 2000; 96: 979-87.
29. Gitschier J, Wood WI, Goralka TM et al. Characterisation of the human factor VIII gene. Nature 1984; 312 326-30.
30. Arai M, Higuchi M, Antonarakis SE et al. Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. Blood 1990; 75: 384-9.
31. Pemberton S, Lindley P, Zaitsev V, Card G, Tuddenham EG, Kemball-Cook G. A molecular model for the triplicated A domains of human factor VIII based on the crystal structure of human ceruloplasmin. Blood 1997; 89: 2413-21.
32. Pattinson JK, Millar DS, McVey JH et al. The molecular genetic analysis of haemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene. Blood 1990; 76: 2242-8.
33. Cutler JA, Mitchell MJ, Smith MP, Savidge GE. The identification and classification of 41 novel mutations in the FVIII gene (F8C). Hum Mutat 2002; 19: 274-8.
34. Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid haemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations [erratum appears in Thromb Haemost 2001; 86: 727]. Thromb Haemost 2001; 85: 580-3.
35. Liu HX, Cartegni L, Zhang MQ, Kramer AR. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 2001; 27: 55-8.
36. Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev 2002; 3: 285-97.
37. Bidichandani SI, Lanyon WG, Shiach CR, Lowe GD, Connor JM. Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. Hum Genet 1995; 95: 531-8.
38. Lynch CM, Israel DI, Kaufman RJ, Miller AD. Sequences in the coding region of clotting FVIII act as dominant inhibitor of RNA accumulation and protein production. Hum Gene Ther 1993; 4: 259-72.
39. Hoeben RC, Fallaux FJ, Cramer SJ et al. Expression of the blood clotting factor VIII cDNA is repressed by a transcriptional silencer located in its coding region. Blood 1995; 85: 2447-54.
40. Nichols WC, Amano K, Cacheris PM et al. Moderation of haemophilia A phenotype by the factor V R506Q mutations. Blood 1996; 88: 1183-7.
41. Ghosh K, Shetty S, Mohanty D. Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay. Haemophilia 2001; 7: 9-12.
42. Berg LP, Varon D, Martinowita U, Wieland K, Kakkar V, Cooper DN. Combined FVIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews. Blood Coagul Fibrinolysis 1994; 5: 59-62.
43. Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A. Mutations in the FVIII gene in seven families with mild haemophilia A. Br J Haematol 1997; 96: 426-7.
44. Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Hum Mutat 1992; 1: 248-57.
45. Rudzki Z, Duncan EM, Casey GJ, Neumann M, Favaloro EJ, Lloyd JV. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol 1996; 94: 400-6.
46. Keeling D, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV. Diagnostic importance of the 2-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954Leu substitution in the FVIII A3 domain. Br J Haematol 1999; 105: 1123-26.
47. Hakeos WH, Hongzhi M, Sirachainan N et al. Haemophilia A mutations within the factor VIII A2-A3 subunit interface destabilize factor VIIIa and cause one-stage/two-stage activity discrepancy. Thromb Haemost 2002; 88: 781-7.
48. Mumford AD, Laffan M, O'Donnell J et al. Tyr346-> Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. Br J Haematol 2002; 118: 589-94.