Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

European Journal of Human Genetics

Volumn 7, Issue 1, 1999, Pages 52-59

  Wijker, M ^s   Morgan, N V ^a   Herterich, S ^b   Van Berkel, C G M ^s   Tipping, A J ^a   Gross, H J ^b   Gille, J J P ^s   Pals, G ^s   Savino, M ^c   Altay, C ^d   Mohan, S ^e   Dokal, I ^f   Cavenagh, J ^g   Marsh, J ^h   Van Weel, M ^s   Ortega, J J ⁱ   Schuler, D ^j   Samochatova, E ^k   Karwacki, M ^l   Bekassy, A N ^m   Abecasis, M ⁿ   Ebell, W ^o   Kwee, M L ^s   De Ravel, T ^p   Gibson, R A ^a   Gluckman, E ^q   Arwert, F ^s   Joenje, H ^s   Savoia, A ^c   Hoehn, H ^b   Pronk, J C ^s   Mathew, C G ^a,r   more..

^a ST THOMAS HOSPITAL   (United Kingdom)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d HACETTEPE UNIVERSITY   (Turkey)

^e Hospital for Children   (India)

^f IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^g ROYAL LONDON HOSPITAL   (United Kingdom)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^j SEMMELWEIS UNIVERSITY   (Hungary)

^k Research Institute of Pediatric Hematology   (Russian Federation)

^l INSTITUTE OF MOTHER AND CHILD   (Poland)

^m LUND UNIVERSITY HOSPITAL   (Sweden)

ⁿ INSTITUTO PORTUGUÊS DE ONCOLOGIA DE LISBOA FRANCISCO GENTIL   (Portugal)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^q SAINT LOUIS HOSPITAL   (France)

^r GUY S HOSPITAL   (United Kingdom)

^s NONE

more..

Author keywords

FAA gene; Fanconi anaemia; Mutations

Indexed keywords

MUTANT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW DEPRESSION; CANCER; CONGENITAL MALFORMATION; EXON; FANCONI ANEMIA; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; MUTATION RATE; NUCLEOTIDE REPEAT; OPEN READING FRAME; PATHOLOGY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0032898006     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200248     Document Type: Article

References (30)

1. Buchwald M, Joenje H, Auerbach AD: Fanconi anaemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease 7th ed. McGraw-Hill: New York, 1997.
2. Schroeder TM, Anschütz F, Knopp A: Spontane Chromosomenaberrationen bei familiärer Panmyelopathie. Humangenetik 1964; 1: 194-196.
3. Seyschab H, Friedl R, Sun Y et al: Comparative evaluation of diepoxybutane sensitivity and cell cycle blockage in the diagnosis of Fanconi anaemia. Blood 1995; 85: 2233-2237.
4. Joenje H, Mathew C, Gluckman E: Fanconi anemia research: current status and prospects. Eur J Cancer 1995; 31A, 268-272.
5. Liu JM, Buchwald M, Walsh CE, Young NS: Fanconi anemia and novel strategies for therapy. Blood 1994; 84: 3995-4007.
6. Strathdee CA, Duncan AMV, Buchwald M: Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nat Genet 1992; 1: 196-198.
7. Joenje H, Lo Ten Foe JR, Oostra AB et al: Classification of Fanconi anaemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 1995; 86: 2156-2160.
8. Joenje H, Oostra AB, Wijker M et al: Evidence for at least eight Fanconi Anemia genes. Am J Hum Genet 1997; 61: 940-944.
9. Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's Anaemia by functional complementation. Nature 1992; 356: 763-767.
10. Gibson RA, Hajianpour A, Murer-Orlando M, Buchwald M, Mathew CG: A nonsense mutation and exon skipping in the Fanconi Anaemia group C gene. Hum Mol Genet 1993; 2: 797-799.
11. Whitney MA, Saito H, Jakobs PM, Gibson RA, Moses RE, Grompe M: A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 1993; 4: 202-205.
12. Murer-Orlando M, Llerena JC Jr, Birjandi F, Gibson RA, Mathew CG: FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. Lancet 1993; 342: 686.
13. Verlander PC, Lin JD, Udono MU et al: Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet 1994; 54: 595-601.
14. Gibson RA, Morgan NV, Goldstein LH et al: Novel mutations and polymorphisms in the Fanconi anaemia group C gene. Hum Mutat 1996; 8:140-148.
15. Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F: Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Hum Mutat 1996; 7: 264-265.
16. 554-to-Pro-substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 1993; 2: 123-126.
17. Buchwald M: Complementation groups: one or more per gene? Nat Genet 1995 11: 228-230.
18. Joenje H, for the European Fanconi Anemia Research Group: Fanconi anaemia complementation groups in Germany and the Netherlands. Hum Genet 1996; 97: 280-282.
19. Pronk JC, Gibson RA, Savoia A et al: Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nat Genet 1995; 11: 338-340.
20. Lo Ten Foe JR, Rooimans MA, Bosnovan-Collins L et al: Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nat Genet 1996; 14: 320-323.
21. The Fanconi Anaemia/Breast Cancer Consortium:* Positional cloning of the Fanconi Anaemia Group A Gene. Nat Genet 1996; 14: 324-328. * Group 1: S Apostolou, SA Whitmore, J Crawford, G Lennon, GR Sutherland, DF Callen (these first two authors contributed equally); Group 2: L Ianzano, M Savino, M D'Apolito, A Notarangelo, E Meneo, MR Piemontese, L Zelante, A Savoia; Group 3: RA Gibson, AJ Tipping, NV Morgan, S Hassock, S Jansen, TJ de Ravel, C van Berkel, J Pronk, DF Easton, CG Mathew; Group 4: O Levran, PC Verlander, SD Batish, T Erlich, AD Auerbach; Group 5: A-M Cleton-Jansen, EW Moerland, CJ Cornelisse; Group 6: NA Doggett, LL Deaven, RK Moyzis.
22. Ianzano L, d'Apolito M, Centra M et al: The genomic organization of the Fanconi anaemia group A (FAA) gene. Genomics 1997; 41: 309-314.
23. Duckworth-Rysiecki G, Cornish K, Clarke CA, Buchwald M: Identification of two complementation groups in Fanconi anemia. Somat Cell Mol Genet 1985; 11: 35-41.
24. Lo Ten Foe JR, Kwee ML, Rooimans MA et al: Somatic mosaicism in Fanconi anaemia: molecular basis and clinical significance. Eur J Hum Genet 1997; 5: 137-148.
25. Levran O, Erlich T, Magdalena N et al: Sequence variation in the Fanconi anemia gene FAA. Proc Natl Acad Sci USA 1997; 94: 13051-13056.
26. Savino M, Ianzano L, Strippoli P et al: Mutations of the Fanconi anemia group A (FAA) gene in Italian patients. Am J Hum Genet 1997; 61: 1246-1253.
27. Yau SC, Bobrow M, Mathew CG, Abbs S: Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker Muscular Dystrophy by fluorescent dosage analysis. J Med Genet 1996; 33: 550-558.
28. Lo Ten Foe JR, Barel MT, Tuss PO, Digweed M, Arwert F, Joenje H: Sequence variations in the Fanconi anaemia C gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant. Hum Genet 1996; 98: 522-523.
29. Grompe M: The rapid detection of unknown mutations in nucleic acids. Nat Genet 1994; 5: 111-117.
30. Gayther SA, Warren W, Mazoyer S et al: Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995; 11: 428-433.