Sequence variations in the Fanconi anaemia gene, FAC: Pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

Human Genetics

Volumn 98, Issue 5, 1996, Pages 522-523

  Lo Ten Foe, Jerome R ^a   Barel, Martine T ^a   Thuß, Peter ^b   Digweed, Martin ^b   Arwert, Fré ^a   Joenje, Hans ^a  

^a VU UNIVERSITY AMSTERDAM   (Netherlands)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FANCONI ANEMIA; GENE MUTATION; GENE SEQUENCE; GENETIC COMPLEMENTATION; GENETIC POLYMORPHISM; GENETIC STABILITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LYMPHOBLAST; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL;

CELL CYCLE PROTEINS; DEOXYRIBONUCLEASE BAMHI; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP C PROTEIN; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; HUMANS; MITOMYCIN; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; PROTEINS;

EID: 0029848631     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050252     Document Type: Article

References (12)

1. Gavish H, Dos Santos CC, Buchwald M (1993) A Leu(554)-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein. Hum Mol Genet 2:123-126
2. 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 2:797799
3. Gibson RA, Morgan NV, Goldstein NV, Pearson IC, Kesterton IP, Foot NJ, Jansen S, Havenga C, Pearson T, Ravel TJ de, Cohn RJ, Marques IM, Dokal I, Roberts I, Marsh J, Ball S, Milner RD, Llerena JC Jr, Samochatova E, Mohan SP, Vasudevan P, Birjandi F, Hajianpour A, Murer-Orlando M, Mathew CG (1996) Novel mutations and polymorphisms in the Fanconi anemia group C gene. Hum Mutat 8:140-148
4. Joenje H, Lo Ten Foe JR, Arwert F, Kate LP ten (1994) Complementation testing and genetic classification of Fanconi's anaemia. Lancet 343:862
5. Joenje H, Lo Ten Foe JR, Oostra AB, Berkel CGM van, Rooimans MA, Schroeder-Kurth T, Wegner R-D, Gille JJP, Buchwald M, Arwert F (1995) Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. Blood 86:2156-2160
6. Kruyt FAE, Dijkmans LM, Berg TK van den, Joenje H (1996) Fanconi anemia genes act to suppress a cross-linker-inducible p53-independent apoptosis pathway in lymphoblastoid cell lines. Blood 87:938-948
7. Liu JM, Buchwald M, Walsh CE, Young NS (1994) Fanconi anemia and novel strategies for therapy. Blood 84:3995-4007
8. Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F (1996) A novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC. Hum Mutat 7:264-265
9. Strathdee CA, Duncan AMV, Buchwald M (1992a) Evidence for at least 4 Fanconi anemia genes including FACC on chromosome 9. Nat Genet 1:196-198
10. Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992b) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763-767; correction: 358:434
11. 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
12. Whitney MA, Sato H, Jakobs PM, Gibson RA, Moses RE, Grompe M (1993) A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4:202-205