Mutated Genes and Abnormal Protein Expression (6)
Overview of the Molecular Biology of Fanconi Anaemia
Fanconi Anaemia: Clinical and Epidemiological Resources

Fanconi anaemia is arare autosomal recessive genetic disorder characterised clinically by progressive bone marrow failure, skeletal deformities and a predisposition to leukaemia. Affected children usually develop severe aplastic anemia by age 8 to 9 years.The condition is thought to caused by a defect in the processing of DNA damage, patient cells can show extreme chromosomal instability.

There are eight known complementation groups in Fanconi Anaemia (FA-A to FA-H). The two most frequent complementation groups are FA-A and FA-C, together they account for 75-80% of patients. Genes for three Fanconi Anaemia complementation groups have been identified:

FANCA (16q24.3)

FANCC (9q22.3)

FANCG (9p13)

Other implicated gene loci include:

FANCD (3p26-p22)

FANCE (6p22-p21)

Garcia-Higuera I, et al. The molecular and cellular biology of Fanconi anemia. [Review] Curr Opin Hematol 1999;6(2):83-8    Related articles (PubMed)

Buchwald M, Moustacchi E Is Fanconi anemia caused by a defect in the processing of DNA damage ? Mutat Res 1998; 408(2):75-90    Related articles (PubMed)

Liu JM Gene transfer for the eventual treatment of Fanconi's anemia. Semin Hematol 1998; 35(2):168-79    Related articles (PubMed)

Joenje H, et al. Evidence for at least eight Fanconi anemia genes. Am J Hum Genet 1997; 61(4):940-4    Related articles (PubMed)

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Fanconi Anaemia Genetics
Fanconi Anaemia : Clinical and Epidemiological Information