Association of complementation group and mutation type with clinical outcome in Fanconi anemia

Blood

Volumn 96, Issue 13, 2000, Pages 4064-4070

  Faivre, Laurence ^b   Guardiola, Philippe ^b   Lewis, Cathryn ^b   Dokal, Inderjeet ^b   Ebell, Wolfram ^b   Zatterale, Ariana ^b   Altay, Cigdem ^b   Poole, Janet ^b   Stones, David ^b   Kwee, Mei Lan ^b   Van Weel Sipman, Margreet ^b   Havenga, Charmaine ^b   Morgan, Neil ^b   De Winter, Johan ^b   Digweed, Martin ^b   Savoia, Anna ^b   Pronk, Jan ^b   De Ravel, Thomas ^b   Jansen, Stander ^b   Joenje, Hans ^b   Gluckman, Eliane ^b   Mathew, Christopher G ^a   more..

^a GUY S HOSPITAL   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CELL CYCLE PROTEIN; DNA BINDING PROTEIN; FANCA PROTEIN, HUMAN; FANCE PROTEIN, HUMAN; FANCF PROTEIN, HUMAN; FANCG PROTEIN, HUMAN; FANCONI ANEMIA GROUP A PROTEIN; FANCONI ANEMIA GROUP E PROTEIN; FANCONI ANEMIA GROUP F PROTEIN; FANCONI ANEMIA GROUP G PROTEIN; FANCONI ANEMIA PROTEIN; NUCLEAR PROTEIN; PROTEIN; RNA BINDING PROTEIN;

ACUTE DISEASE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; APLASTIC ANEMIA; ARTICLE; CHILD; CLASSIFICATION; COMPARATIVE STUDY; FANCONI ANEMIA; GENE DELETION; GENE FREQUENCY; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; HUMAN; INFANT; MIDDLE AGED; MORTALITY; MULTIPLE MALFORMATION SYNDROME; MYELODYSPLASTIC SYNDROME; MYELOID LEUKEMIA; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; RISK; SURVIVAL;

ABNORMALITIES, MULTIPLE; ACUTE DISEASE; ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; ANEMIA, APLASTIC; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP A PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP E PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP F PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP G PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; GENE DELETION; GENE FREQUENCY; GENETIC COMPLEMENTATION TEST; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; LEUKEMIA, MYELOID; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; NUCLEAR PROTEINS; PHENOTYPE; POINT MUTATION; PROTEINS; RISK; RNA-BINDING PROTEINS; SEQUENCE DELETION; SURVIVAL ANALYSIS;

EID: 0034672154     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Young NS, Alter BP. Clinical features of Fanconi's anemia. In: Young NS, Alter BP, eds. Aplastic Anemia Acquired and Inherited. Philadelphia, PA: WB Saunders; 1994:275-309.
2. Alter BP. Fanconi's anemia and its variability. Br J Haematol. 1993;85:9-14.
3. Giampietro PF, Alder-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the international Fanconi anemia registry. Pediatrics. 1993;91:1116-1120.
4. Auerbach AD, Buchwald M, Joenje H. Fanconi anemia. In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Human Cancer. New York, NY: McGraw Hill; 1998:317-332.
5. Butturini A, Gale RP, Verlander PC, Alder-Brecher B, Gillio AP, Auerbach AD. Hematologic abnormalities in Fanconi anemia: an international Fanconi anemia registry study. Blood. 1994;84:1650-1655.
6. Liu JM, Auerbach AD, Young NS. Fanconi anemia presenting unexpectedly in an adult kindred with no dysmorphic features. Am J Med. 1991;91:555-557.
7. Cavenagh JD, Richardson DS, Gibson RA, Mathew CG, Newland AC. Fanconi's anemia presenting as acute myeloid leukemia in adulthood. Br J Haematol. 1996;94:126-128.
8. Evans DGR, Rees HC, Spreadborough A, et al. Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anemia. Clin Dysmorph. 1994;3:200-206.
9. Wegner RD, Henrichs I, Joenje H, Schroeder-Kurth T. Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. Clin Genet. 1996;50:479-482.
10. Cox MP, Gibson RA, Morgan N, Brueton LA. VACTERL with hydrocephalus in twins due to Fanconi anemia (FA): mulation in the FAC gene. Am J Med Genet. 1997;68:86-90.
11. Gluckman E, Auerbach AD, Horowitz MM, et al. Bone marrow transplantation for Fanconi anemia. Blood. 1995;86:2856-2862.
12. Auerbach AD, Rogatko A, Schroeder-Kurth TM. International Fanconi anemia registry: relation of clinical symptoms to diepoxybutane sensibility. Blood. 1989;73:391-396.
13. Strathdee CA, Gavish H, Shannon WR, Buchwald M. Cloning of cDNAs for Fanconi's anemia by functional complementation. Nature. 1992; 356:763-767.
14. Joenje H, Oostra AB, Wijker M, et al. Evidence of at least eight Fanconi anemia genes. Am J Hum Genet. 1997;61:940-944.
15. Joenje H, Levitus M, Waisfisz Q, et al. Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. Am J Hum Genet 2000;67:759-762.
16. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, et al. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA. Nat Genet. 1996; 14:320-323.
17. The Fanconi Anemia/Breast Cancer Consortium. Positional cloning of the Fanconi anemia group A gene. Nat Genet. 1996;14;324-328.
18. de Winter JP, Rooimans MA, van der Weel L, et al. The Fanconi anemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000;24:15-16.
19. de Winter JP, Waisfisz Q, Rooimans MA, et al. The Fanconi anemia group G gene FANCG is identical with XRCC9. Nat Genet. 1998;20:281-283.
20. Joenje H. Fanconi anemia complementation groups in Germany and the Netherlands. Hum Genet. 1996;97:280-282.