Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2016; 115(03): 678-681
DOI: 10.1160/th15-08-0643
DOI: 10.1160/th15-08-0643
Letters to the Editor
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications
Financial support: This study was supported by grants from the René Barón Foundation, the Alberto J. Roemmers Foundation, the Florencio Fiorini Foundation, the National Research Council (CONICET), the Agencia Nacional de Promoción de la Científica y Tecnológica (ANPCyT) and the World Federation of Hemophilia.
Further Information
Publication History
Received:
12 August 2015
Accepted after minor revision:
13 October 2015
Publication Date:
20 March 2018 (online)
Supplementary Material to this article is available online at www.thrombosis-online.com.
* M. M. Abelleyro and L. C. Rossetti contributed equally to this work and are both first authors.
-
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.