Mutations in the fibrinogen Aα gene account for the majority of cases of congenital afibrinogenemia

Blood

Volumn 96, Issue 1, 2000, Pages 149-152

  Neerman Arbez, Marguerite ^a   De Moerloose, Philippe ^b   Bridel, Claire ^b   Honsberger, Ariane ^b   Schönbörner, Anni ^b   Rossier, Colette ^b   Peerlinck, Kathelijne ^b   Claeyssens, Ségolène ^b   Di Michele, Donna ^b   D'Oiron, Roseline ^b   Dreyfus, Marie ^b   Laubriat Bianchin, Monique ^b   Dieval, Jacelyne ^b   Antonarakis, Stylianos E ^b   Morris, Michael A ^b  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN;

ADOLESCENT; AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC RECOMBINATION; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; MALE; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; EXON; GENETICS; HETEROZYGOTE DETECTION; HOMOZYGOTE; MUTATION; PRESCHOOL CHILD; SWITZERLAND;

ADOLESCENT; AFIBRINOGENEMIA; BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FIBRINOGEN; HAPLOTYPES; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; SEQUENCE DELETION; SWITZERLAND;

EID: 0034214836     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Rabe F, Salomon E. Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Intern Med. 1920;95:2-14.
2. Martinez J. Congenital dysfibrinogenemia. Curr Opin Hematol. 1997;4:357-365.
3. Crabtree GR. The molecular biology of fibrinogen. In: Stamatoyannopoulos G, Nienhuis AW, Leder P. et al, eds. The Molecular Basis of Blood Diseases. Philadelphia: WB Saunders; 1987.
4. Lak M, Keihani M, Elahi F. Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol. 1999; 107:204-206.
5. Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR. Evolution and organization of the librinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci USA. 1985;82: 2344-2348.
6. Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest. 1999;103:215-218.
7. Neerman-Arber M, Antonarakis SE, Honsberger A, Morris MA. The 11kb FGA deletion responsible for congenital afibrinogenemia is mediated by a short direct repeat in the fibrinogen gene cluster. Eur J Hum Genet. 1999;7:897-902.
8. Clauss A. Gerinnungsphysiotogische Schnell-methode zur Bestimmum des Fibrinogens. Acta Haematol. 1957;17:237-246.
9. Mancini G, Carbonara AO, Heremans JF. Immunochemical quantilation of antigens by single radial immunodiffusion, Immunochemistry. 1965;2: 235-254.
10. Laurell CB. Quantitative estimation of proteins by eleotrophoresis in agarose gels containing antibodies. Anal Biochem. 1966;15:35-52.
11. Grieninger G, Lu X, Cao Y, et al. Fib420, the novel fibrinogen subclass: newborn levels are higher than adult. Blood. 1997;90:2609-2614.
12. Neerman-Arbez M, Johnson KM, Morris MA, et al. Molecular analysis of the ERGIC-53 gene in 35 families with combined Factor V-Factor VIII deficiency (F5F8D). Blood. 1999;93:2253-2260.
13. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 1992;90:41-54.
14. Rogozin IB, Milanesi L. Analysis of donor splice signals in different organisms. J Mol Evol. 1997; 45:50-59.
15. Cooper DN, Krawczak M, Antonarakis SE. The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill: 1995; 259-291.
16. Ohno K. Brengman JM, Felice KJ, Cornblath DR, Engel AG. Congenital end-plate acetylcholine-sterase deficiency caused by a nonsense mutation and an A - G splice-donor-site mutation at position +3 of the collagenlike-tail subunit gene (COLQ): how does G at position +3 result in aberrant splicing? Am J Hum Genet. 1999;65:635-644.
17. Duga S, Asselta R, Santagostino E, et al. Mis-sense mutations in the human β fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95:1336-1341.
18. Furlan M, Steinmann C, Jungo M, et al A frame-shift mutation in exon V of the A alpha-chain gene leading to truncated A alpha-chains in the homozygous dysfibrinogen Milano III. J Biol Chem. 1994;269:33129-33134.
19. Koopman J, Haverkate F, Grimbergen J, Egbring R, Lord ST. Fibrinogen Marburg: a homozygous case of dysfibrinogenemia, lacking amino acids A alpha 461-610 (Lys 461 AAA - stop TAA). Blood. 1992;80:1972-1979.
20. Ridgway HJ, Brennan SO, Gibbons S, George PM. Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting. Br J Haematol. 1996;93:177-184.
21. Ridgway HJ, Brennan SO, Faed JM, George PM. Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br J Haematol. 1997;98: 632-639.