Phenotypic consequences of mutations in the Fanconi anemia FAC gene: An International Fanconi Anemia Registry study

Blood

Volumn 90, Issue 1, 1997, Pages 105-110

  Gillio, Alfred P ^b   Verlander, Peter C ^b   Batish, S D ^b   Giampietro, P F ^b   Auerbach, Arleen D ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ARTICLE; DATA ANALYSIS; DISEASE ASSOCIATION; DNA CROSS LINKING; EXON; FANCONI ANEMIA; GENE MUTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MEDICAL RECORD; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; STATISTICAL ANALYSIS; SURVIVAL TIME;

EID: 0030960336     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v90.1.105     Document Type: Article

References (36)

1. Auerbach AD, Rogatko A: Schroeder-Kurth TM: International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensivitiy. Blood 73:391, 1989
2. Young NS, Alter BP: Clinical features of Fanconi's Anemia, in Young NS, Alter BP (eds): Aplastic Anemia: Acquired and Inherited. Philadelphia, PA, Saunders, 1994, p 275
3. Giampietro PF, Adler-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 91:1116, 1993
4. Giampietro, PF, Verlander, PC, Davis JG, Auerbach AD: Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry study. Am J Med Genet 68:58, 1997
5. Butturini A, Gale RP, Verlander PC, Adler-Brecher B, Gillio A: Auerbach AD: Hematologic abnormalities in Fanconi anemia: An International Fanconi Anemia Registry study. Blood 84:1650, 1994
6. Auerbach AD, Allen RG: Leukemia and preleukemia in Fanconi anemia patients: A review of the literature and report of the International Fanconi Anemia Registry. Cancer Genet Cytogenet 51:1, 1991
7. Joenje H, Lo Ten Foe JR, Oostra AB, van Berkel CGM, Rooimans MA, Schroeder-Kurth TM, Wegner R-D, Gille JJP, Buchwald M, Arwert F: Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype. Blood 86:2156, 1995
8. Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's anemia by functional complementation. Nature 356:763, 1992
9. Gibson RA, Buchwald M, Roberts RG, Mathew CG: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Mol Genet 2:35, 1993
10. Youssoufian H: Cytoplasmic localization of FAC is essential for the correction of a prerepair detect in Fanconi anemia group C cells. J Clin Invest 97:2003, 1996
11. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Matthew CG, Auerbach AD: Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54:959, 1994
12. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Matthew CG: A nonsense mutation and exon skipping in the Fanconi anemia group C gene. Hum Mol Genet 2:979, 1993
13. Murer-Orlando M, Lierena JCJ, Birjandi F, Gibson RA, Matthew CG: FACC gene mutations and early prenatal diagnosis of Fanconi's anemia. Lancet 342:686, 1993
14. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M: A common mutation in the FACC gene causes Fanconi anemia in Ashkenazi Jews. Nat Genet 4:202, 1993
15. Gibson RA, Morgan NV, Goldstein LH, Pearson IC, Kesterton IP, Foot NJ, Jansen S, Havenga C, Pearson T, de Ravel TJ, Cohn RJ, Marques IM, Dokal I, Roberts I, Marsh J, Ball S, Milner RD, Lierena Jr: JC, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG: Novel mutations and polymorphisms in the Fanconi anaemia group C. gene. Hum Mutat 8:148, 1996
16. Gavish H, dos Santos CC, Buchwald M: A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 2:123, 1993
17. Youssoufian H, Li Y, Martin ME, Buchwald M: Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele. J Clin Invest 97:957, 1996
18. Lo Ten Foe JR, Barel MT, Thuss P, Digweed M, Arwert F, Joenje H: Sequence variations in the Fanconi anaemia gene, FAC: Pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. Hum Genet 98:533, 1996
19. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AC: Carrier frequency of the IVS4 +4 A>T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 86:4034, 1995
20. Auerbach AD: Diagnosis of Fanconi anemia by diepoxybutane analysis, in Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman JG, Smith DR (eds): Current Protocols in Human Genetics. New York, NY, Wiley, 1994, p 8.7.1
21. Mantel N: Evaluation of survival data and two new rank order statistics arising in its consideration. Cancer Chemother Rep 50:163, 1966
22. Kaplan EL, Meier P: Non-parametric estimation from incomplete observations. Am Stat Assoc 53:457, 1958
23. Gluckman E, Auerbach AD, Horowitz MM, Sobocinski KA, Ash RC, Bortin MM, Butturini A, Camitta BM, Champlin RE, Friedrich W, Good RA, Gordon-Smith EC, Harris RE, Klein JP, Ortega JJ, Pasquini R, Ramsay NKC, Speck B, Vowels MR, Zhang M-J, Gale RP: Bone marrow transplantation for Fanconi anemia. Blood 86:2856, 1995
24. Kohli-Kumar M, Morris C, DeLaat C, Sambrano J, Masterson M, Mueller R, Shahidi NT, Yanik G, Desantes K, Friedman DJ, Auerbach AD, Harris RE: Bone marrow transplantation in Fanconi anemia using matched sibling donors. Blood 94:2050, 1994
25. Davies AM, Khan S, Wagner JE, Arthur DC, Auerbach AC, Ransay NKC, Weisdorf DJ: Unrelated donor bone marrow transplantation for Fanconi anemia. Bone Marrow Transplant 17:43, 1996
26. Yamashita T, Wu N, Kupfer G, Corless C, Joenje H, Grompe M, D'Andrea AD: Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity. Blood 87:4424, 1996
27. Yamashita T, Barber D, Zhu Y, Wu N, D'Andrea AD: The Fanconi anemia polypeptide, FAC, is localized to cytoplasm. Proc Natl Acad Sci USA 91:6712, 1994
28. Youssoufian H: Localization of Fanconi Anemia-C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci USA 91:7975, 1994
29. Youssoufian H, Auerbach AD, Verlander PC, Steimle V, Mach B: Identification of cytosolic proteins that bind to the Fanconi Anemia complementation group C polypeptide in vitro. J Biol Chem 270:9876, 1995
30. Verlander PC, Shin HT, Auerbach AD: Haplotype analysis of polymorphic markers surrounding the Fanconi anemia gene FAC: Evidence for a founder effect for the IVS4 +4 A > T mutation in the Ashkenazi Jewish population. Am J Hum Genet 57:A174, 1995 (abstr)
31. Pronk JC, Gibson RA, Savoia A, Wijker M, Morgan NV, Melchionda S, Ford D, Temtamy S, Ortega JJ, Jansen S, Havenga C, Conn RI, de Ravel TJ, Roberts I, Westerveld A, Easton DF, Joenje H, Mathew CG, Arwert F: Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nat Genet 11:338, 1995
32. Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, Weissenbach J, Altay C, Lander ES, Auerbach AD, Botstein D: A locus for Fanconi anemia on 16q determined by homozygosity of mapping. Am J Hum Genet 59:377, 1996
33. The Fanconi Anaemia Breast Cancer Consortium: Positional cloning of the Fanconi anaemia group A gene. Nat Genet 14:324, 1996
34. Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Cheng NC, van Berkel CGM, Strunk MHP, Gille JJP, Kruyt FAE, Pronk JC, Arwert F, Buchwald M, Joenje H: A cDNA for the major Fanconi anemia gene, FAA. Nat Genet 14:320, 1996
35. Buchwald M: Complementation groups: One or more per gene. Nat Genet 11:228, 1995
36. Levran O, Fann C, Erlich T, Ott J, Auerbach AD: Linkage analysis of Fanconi anemia: Refinement of the FAA locus at 16q24.3 Am J Hum Genet 59:A225, 1996 (abstr)