Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects

Haematologica

Volumn 92, Issue 6, 2007, Pages 842-845

  Rossetti, Liliana C ^a   Radic, Claudia Pamela ^a   Candela, Miguel ^a   Bianco, Raúl Pérez ^a   Pinto, Miguel De Tezanos ^a   Goodeve, Anne ^b   Larripa, Irene B ^a   De Brasi, Carlos D ^a  

^a ACADEMIA NACIONAL DE MEDICINA   (Argentina)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

F8; HEMA; Mutation characterization; Severe phenotype

Indexed keywords

BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 ANTIBODY;

ARGENTINA; ARTICLE; BIOINFORMATICS; CHROMOSOME INVERSION; DISEASE SEVERITY; DNA POLYMORPHISM; FAMILY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; HEMOPHILIA A; HUMAN; MAJOR CLINICAL STUDY; MEDICAL INFORMATION; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN ANALYSIS; TREATMENT PLANNING; BIOLOGY; EPIDEMIOLOGY; FAMILY HEALTH; GENETICS; MALE; MUTATION;

ARGENTINA; COMPUTATIONAL BIOLOGY; EPIDEMIOLOGY, MOLECULAR; FACTOR VIII; FAMILY HEALTH; FEMALE; GENE REARRANGEMENT; GENETIC COUNSELING; HEMOPHILIA A; HUMANS; MALE; MUTATION;

EID: 34347258169     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11112     Document Type: Article

References (18)

1. Gitschier J, Wood WI, Goralka TM, Wion KL, Chen EY, Eaton DH, et al. Characterisation of the human factor VIII gene. Nature 1984;312:326-30.
2. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting me factor VIII gene are common cause of severe. Haemophilia A. Nature Genet 1993; 5:236-41.
3. 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 inversions. Hum Molec Genet 1993;2:1773-8.
4. 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.
5. De Brasi CD, Rossetti LC, Larripa IB. Rapid genotyping of XbaI and MspI DNA polymorphisms of the human factor VIII gene: estimation of their combined heterozygosity in the Argentinean population. Haematologica 2003;88:232-4.
6. Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Genotyping the Hemophilia Inversion Hotspot by use of Inverse PCR. Clin Chem 2005;51:1154-8.
7. Williams IJ, Abuzenadah A, Winship PR, Preston FE, Dolan G, Wright J, Peake IR, Goodeve AC. Precise carrier diagnosis in families with Haemophilia A: Use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. Thromb Haemost 1998;79:723-6.
8. Den Dunnen JE, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7-12.
9. 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.
10. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: An environment for comparative protein modelling. Electrophoresis 1997;18:2714-23.
11. Antonarakis SE and a consortium of more man 50 international authors. FVIII gene inversions in severe haemophilia A: results of an international consortium study. Blood 1995;86:2206-12.
12. Rossiter JP, Young M, Kimberland L, Hutter P, Ketterling RP, Gitschier J, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Molec Genet 1994;3:1035-9.
13. Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 2005;6:488-501.
14. Vehar GA, Keyt B, Eaton D, Rodriguez H, O'Brien DP, Rotblat F, et al. Structure of human factor VIII. Nature 1984; 312:337-42.
15. Cooper N, Krawczack M. 1993. Human Gene Mutation. Bio Scientific Publishers.
16. Kemball-Cook G, Tuddenham EG, Wacey AI. The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 1998;1:26:216-9.
17. Goodeve AC, Peake IR. The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Hemost 2003;29:23-30.
18. Oldenburg J, Pavlova A. Genetic Risk factors for Inhibitor to factors VIII and IX. Haemophilia 2006; 12:15-22.