F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications

Supplementary Material to this article is available online at www.thrombosis-online.com.

• References

• 1 Naylor J, Brinke A, Hassock S. et al. Characteristic mRNA abnormality found in half the patients with severe Haemophilia A is due to large inversions. Hum Mol Genet 1993; 2: 1773-1778.
• 2 Lakich D, Kazazian HH, Antonarakis SE. et al. Inversions disrupting the factor VIII gene are common cause of severe Haemophilia A. Nat Genet 1993; 5: 236-241.
• 3 Antonarakis SE, Rossiter JP, Young M. et al. FVIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995; 86: 2206-2212.
• 4 De Brasi CD, Candela M, Cermelj M. et al. Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A. Haemophilia 2000; 6: 21-22.
• 5 Liu Q, Nozari G, Sommer SS. Single-tube polyme-rase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A. Blood 1998; 92: 1458-1459.
• 6 Rossetti LC, Radic CP, Larripa IB. et al. Genotyp-ing the hemophilia inversion hotspot by use of inverse PCR. Clin Chem 2005; 51: 154-158.
• 7 Bagnall RD, Giannelli F, Green PM. Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. J Thromb Haemost 2005; 3: 2598-2599.
• 8 Bagnall RD, Giannelli F, Green PM. Int22h-related Inversions causing hemophilia A: A novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost 2006; 4: 591-598.
• 9 Rossetti LC, Radic CP, Larripa IB. et al. Developing e new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost 2008; 6: 830-836.
• 10 Edelmann J, Deichsel D, Hering S. et al. Sequence variation and allele nomenclature for the X-linked STRs DXS9895, DXS8378, DXS7132, DXS6800, DXS7133, GATA172D05, DXS7423 and DXS8377. Forensic Sci Int 2002; 129: 99-103.
• 11 Fimiani G, Laperuta C, Falco G. et al. Heterozy-gosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction. Hum Reprod 2006; 21: 529-535.
• 12 Machado FB, Medina-Acosta E. High-resolution combined linkage physical map of short tandem repeat loci on human chromosome band Xq28 for indirect haemophilia A carrier detection. Haemophilia 2009; 15: 297-308.
• 13 Liang Y, Zhao Y, Yan M. et al. Prenatal diagnosis of haemophilia A in China. Prenat Diagn 2009; 29: 664-667.
• 14 Machado FB, Alves Da Silva AF, Rossetti LC. et al. Informativeness of a novel multiallelic marker-set comprising an F8 intron 21 and three tightly linked loci for haemophilia A carriership analysis. Haemophilia 2011; 17: 257-266.
• 15 Rossetti LC, Szurkalo I, Radic CP. et al. Factor VIII genotype characterization of haemophilia A affected patients with transient and permanent inhibitors: a comprehensive Argentine study of inhibitor risks. Haemophilia 2013; 19: 511-518.
• 16 1000 Genomes Project Consortium. Abecasis GR, Auton A, Brooks LD. et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012; 491: 56-65.
• 17 Lewis T, Pont-Kingdon G, Louie Y. et al. Interference with IS-PCR assays for Inv22 Testing of Hemophilia A Poster Code 3182F. 62nd Annual Meeting of the American Society of Human Genetics. 2012: 242.
• 18 Andrikovics H, Klein I, Bors A. et al. Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A. Haematologica 2003; 88: 778-784.
• 19 Mühle C, Zenker M, Chuzhanova N. et al. Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A. Hum Mutat 2007; 28: 1045.
• 20 Zimmermann MA, Oldenburg J, Müller CR. et al. Unusual genomic rearrangements in introns 1 and 22 of the F8 gene. Hamostaseologie 2011; 31: 69-73.
• 21 Pezeshkpoor B, Rost S, Oldenburg J. et al. Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats. J Thromb Haemost 2012; 10: 1600-1608.
• 22 Lannoy N, Grisart B, Eeckhoudt S. et al. Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene. Eur J Hum Genet 2013; 21: 970-976.
• 23 El-Hattab AW, Fang P, Jin W. et al. Int22 h-1/int22 h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet 2011; 48: 840-850.
• 24 Abou-Elew H, Ahemed H, Raslan H. et al. Geno-typing of intron 22-related rearrangements of F8 by inverse-shifting PCR in Egyptian hemophilia A patients. Ann Hematol 2011; 90: 579-584.
• 25 Abelleyro MM, Rossetti LC, Radic CP. et al. Are int22h mediated deletions a common cause of hemophilia?. Ann Hematol 2012; 91: 633-636.