The molecular aetiology of haemophilia A in a New Zealand patient group

Haemophilia

Volumn 13, Issue 4, 2007, Pages 420-427

  Laurie, A D ^a   Sheen, Campbell R ^a   Hanrahan, V ^a   Smith, M P ^a   George, P M ^a  

^a CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

Factor VIII; Founder effect; Haemophilia A; Haplotype; Mutation; Non random X chromosome inactivation

Indexed keywords

BLOOD CLOTTING FACTOR 8; NUCLEIC ACID;

5' UNTRANSLATED REGION; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME BAND; CHROMOSOME INACTIVATION; CHROMOSOME INVERSION; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; FEMALE; FOUNDER EFFECT; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEMOPHILIA A; HUMAN; INHERITANCE; MALE; MICROSATELLITE MARKER; NEW ZEALAND; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEX DIFFERENCE; X CHROMOSOME;

DNA MUTATIONAL ANALYSIS; FACTOR VIII; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HEMOPHILIA A; HUMANS; MALE; NEW ZEALAND; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; X CHROMOSOME INACTIVATION;

EID: 34447276431     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01487.x     Document Type: Article

References (29)

1. 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: 236-41.
2. 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.
3. 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.
4. Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998; 92: 1458-9.
5. Kilian NL, Pospisil V, Hanrahan V. Haemophilia A, factor VIII intron 22 inversion screening using subcycling-PCR. Thromb Haemost 2006; 95: 746.
6. Oldenburg J, Ivaskevicius V, Rost S et al. Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods 2001; 47: 39-51.
7. Harraway JR, Smith MP, George PM. A highly informative, multiplexed assay for the indirect detection of hemophilia A using five-linked microsatellites. J Thromb Haemost 2006; 4: 587-90.
8. Kubota T, Nonoyama S, Tonoki H et al. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 1999; 104: 49-55.
9. Frommer M, McDonald LE, Millar DS et al. A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands. Proc Natl Acad Sci U S A 1992; 89: 1827-31.
10. Bogdanova N, Markoff A, Pollmann H et al. Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat 2005; 26: 249-54.
11. Ghosh K, Shetty S, Mohanty D. Inversion of intron 1 is a rare cause of severe hemophilia A in Indian population. J Thromb Haemost 2004; 2: 1481-2.
12. Mannucci PM, Coppola R, Lombardi R, Papa M, de Biasi R. Direct proof of extreme lyonization as a cause of low factor VIII levels in females. Thromb Haemost 1978; 39: 544-5.
13. Beever CL, Stephenson MD, Penaherrera MS et al. Skewed X-chromosome inactivation is associated with trisomy in women ascertained on the basis of recurrent spontaneous abortion or chromosomally abnormal pregnancies. Am J Hum Genet 2003; 72: 399-407.
14. Ahmed RP, Ivaskevicius V, Kannan M, Seifried E, Oldenburg J, Saxena R. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica 2005; 90: 283-4.
15. Leuer M, Oldenburg J, Lavergne JM et al. Somatic mosaicism in hemophilia A: A fairly common event. Am J Hum Genet 2001; 69: 75-87.
16. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev 2003; 17: 419-37.
17. Frusconi S, Passerini I, Girolami F et al. Identification of seven novel mutations of F8C by DHPLC. Hum Mutat 2002; 20: 231-2.
18. Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: Report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia 2005; 11: 133-41.
19. Young M, Inaba H, Hoyer LW, Higuchi M, Kazazian HH Jr, Antonarakis SE. Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. Am J Hum Genet 1997; 60: 565-73.
20. 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 A phenotype. Thromb Haemost 1997; 79: 452-3.
21. 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.
22. Liu ML, Nakaya S, Thompson AR. Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. Thromb Haemost 2002; 87: 273-6.
23. Hay CR, Ludlam CA, Colvin BT et al. Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thromb Haemost 1998; 79: 762-6.
24. Fijnvandraat K, Turenhout EA, van den Brink EN et al. The missense mutation Arg593 → Cys is related to antibody formation in a patient with mild hemophilia A. Blood 1997; 89: 4371-7.
25. 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.
26. Tavassoli K, Eigel A, Pollmann H, Horst J. Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations. Hum Genet 1997; 100: 508-11.
27. Ananyeva NM, Lacroix-Desmazes S, Hauser CA et al. Inhibitors in hemophilia A: Mechanisms of inhibition, management and perspectives. Blood Coagul Fibrinolysis 2004; 15: 109-24.
28. Thompson AR. Structure and function of the factor VIII gene and protein. Semin Thromb Hemost 2003; 29: 11-22.
29. Stoilova-McPhie S, Villoutreix BO, Mertens K, Kemball-Cook G, Holzenburg A. 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood 2002; 99: 1215-23.