Fanconi anaemia in Italy: High prevalence of complementation group A in two geographic clusters

Human Genetics

Volumn 97, Issue 5, 1996, Pages 599-603

  Savoia, Anna ^a   Zatteral, Adriana ^b   Principe, Domenico ^c   Joenje, Hans ^d  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Ospedale Elena d'Aosta   (Italy)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FANCONI ANEMIA; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HUMAN CELL; ITALY; LYMPHOBLAST; MALE; MARKER GENE; MOLECULAR CLONING; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0029947378     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281868     Document Type: Article

References (25)

1. Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989) International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 73 : 391-396
2. Barbujani G. Sokal RR (1991) Genetic population structure of Italy. II. Physical and cultural barriers to gene flow. Am J Hum Genet 48 : 398-411
3. Barbujani G, Bertorelle G. Capitani G, Scozzari R (1995) Geographical structuring in the mtDNA of Italians. Proc Natl Acad Sci USA 92 : 9171-9175
4. Buchwald M (1995) Complementation groups: one or more per aene? Nat Genet 11 : 228-230
5. Cleaver JE, McDowell M. Jones C. Wood R, Karentz D (1994) Mutation and expression of the XPA gene in revenants and hybrids of a xeroderma pigmentosum cell line. Somatic Cell Mol Genet 20 : 327-337
6. Duckworth-Rysiecki G, Cornish K, Clarke CA. Buchwald M (1985) Identification of two complementation groups in Fanconi anemia. Somatic Cell Mol Genet 11 : 35-41
7. Giampietro PF. Adler-Brecher B. Verlander PC, Pavlakis SG. Davis JG, Auerbach AD (1993) The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 91 : 1116-1120
8. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG (1993) A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 2:797-799
9. Gibson RA, Ford D. Jansen S. Savoia A, Havenga C, Milner RD. de Ravel TJ, Cohn RJ. Ball SE, Roberts I, Llerena JC, Vorechovsky I. Pearson T. Birjandi F, Hussein SS. Murer-Orlando M, Easton DF, Mathew CG (1994) Genetic mapping of the FACC gene and linkage analysis in Fanconi anemia families. J Med Genet 31 : 868-871
10. Joenje H. (for EUFAR) (1995) Fanconi anemia complementation groups in Germany and The Netherlands. Hum Genet (in press)
11. Joenje H. Mathew C. Gluckman E (1995 a) Fanconi anaemia research: current status and prospects. Eur J Cancer 31 A:268-272
12. Joenje H. Lo Ten Foe JR, Oostra AB, van Berkel CGM, Rooimans MA. Schroeder-Kurt T. Wegner R-D. Gille JJP. Buchwald M. Arwert F (1995 b) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86 : 2156-2160
13. Lehmann AR, Bootsma D. Clarkson SG, Cleaver JE, McAlpine PJ. Tanaka K. Thompson LH. Wood RD (1994) Nomenclature of human DNA repair genes. Mutat Res 315 : 41-42
14. Liu JM, Buchwald M, Walsh CE, Young NS (1994) Fanconi anemia and novel strategies for therapy. Blood 84 : 3995-4007
15. Piazza A. Cappello N. Olivetti E. Rendine S (1988) A genetic history of Italy. Ann Hum Genet 52 : 203-213
16. Pronk JC. Gibson RA. Savoia A, Wijker M, Morgan NV. Melchionda S. Ford D. Temtamy S. Ortega JJ. Jansen S, Havenga C. Cohn RJ. de Ravel TJ. Roberts I. Westerveld A. Easton DF. Joenje H, Mathew CG. Arwert F (1995) Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3 by linkage analysis and allelic association. Nat Genet 11 : 338-340
17. Sansone R. Sansone G (1990) the Italian contribution to the study of Fanconi's anemia. Pathologica 82 : 473-478
18. Schroeder-Kurth T. Auerbach AD. Obe G (eds) (1989) Fanconi anemia. Clinical, cytogenetic and experimental aspects. Springer. Berlin Heidelberg New York
19. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356 : 763-767
20. Verlander PC. Lin JD. Udono MU. Zhang Q, Gibson RA, Mathew CG. Auerbach AD (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 54 : 595-601
21. Whitney MA, Saito H. Jakobs PM, Gibson RA. Moses RE, Grompe M (1993) A common mutation in the FACC gene causes Fanconi anemia and Ashkenazi Jews. Nat Genet 4:202-205
22. Yamashita T. Barber DL, Zhu Y, Wu N, D'Andrea AD (1994) The Fanconi anemia polypeptide FACC is localized to the cytoplasm. Proc Natl Acad Sci USA 91 : 6712-6716
23. Young NS. Alter BP (1993) Aplastic anemia, acquired and inherited, Saunders, Philadelphia
24. Youssoufian H (1994) Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. Proc Natl Acad Sci USA 91 : 7975-7979
25. Zatterale A, Calzone R, Renda S. Catalano L. Selleri C, Notaro R, Rotoli B (1995) Identification and treatment of late onset Fanconi anaemia. Haematologica 80:535-538