Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

M. M. Abelleyro; V. D. Marchione; L. Elhelou; C. P. Radic; L. C. Rossetti; D. Neme; C. D. De Brasi

doi:10.1055/s-0038-1623536

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2018; 118(03): 617-620
DOI: 10.1055/s-0038-1623536

Letter to the Editor

Schattauer GmbH Stuttgart

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation

M. M. Abelleyro^*

,

V. D. Marchione^*

,

L. Elhelou

,

C. P. Radic

,

L. C. Rossetti

,

D. Neme

,

C. D. De Brasi

Abstract

Volltext

Referenzen

References
1 Marchione VD, Zuccoli JR, Abelleyro MM. , et al. A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A. Haemophilia 2017; 23 (02) e166-e169
2 Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13 (01) 90-92
3 Rohlin A, Wernersson J, Engwall Y, Wiklund L, Björk J, Nordling M. Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques. Hum Mutat 2009; 30 (06) 1012-1020
4 Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002; 3 (10) 748-758
5 Leuer M, Oldenburg J, Lavergne JM. , et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 2001; 69 (01) 75-87
6 Ranjan R, Biswas A, Meena A. , et al. Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India. Clin Chim Acta 2008; 389 (1-2): 103-108
7 Levinson B, Lehesjoki AE, de la Chapelle A, Gitschier J. Molecular analysis of hemophilia A mutations in the Finnish population. Am J Hum Genet 1990; 46 (01) 53-62
8 Higuchi M, Kochhan L, Olek K. A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med 1988; 5 (01) 23-27
9 Bröcker-Vriends AH, Briët E, Dreesen JC. , et al. Somatic origin of inherited haemophilia A. Hum Genet 1990; 85 (03) 288-292
10 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 (08) 2905-2906
11 Barton LJ, LeBlanc MG, Lehmann R. Finding their way: themes in germ cell migration. Curr Opin Cell Biol 2016; 42: 128-137
12 Williams IJ, Abuzenadah A, Winship PR. , et al. Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998; 79 (04) 723-726
13 Abelleyro MM, Radic CP, Tetzlaff T. , et al. Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR. Haemophilia 2015; 21 (03) e247-e251

Zusatzmaterial

Supplementary Figure