ABSTRACT

Fanconi anaemia (FA) was originally described as an autosomal recessive disorder, characterized by progressive pancytopenia, diverse congenital abnormalities and increased predisposition to malignancy [1]. FA cells show a high level of chromosomal breakage, both spontaneously or when induced by cross-linking agents such as mitomycin C, nitrogen mustard, diepoxybutane or photoactivated psoralens [2-3]. At least five genetic complementation groups (A-E) have been described [4]. In Europe, the frequency of each complementation group has been determined: FA-A 66%; FA-B 4.3%; FA-C 12.7%; FA-D 4.3%; FA-E 12.7%. The cDNA for group C has been cloned and located on chromosome 9q22.3 [5]. Six disease-associated sequences were found; one mutation IVS4 >T is observed mostly in Ashkenazi Jews and is associated with poor prognostic features. The function of the FAC gene is, however, still unknown [6-8]. More recently, the gene for group A has been localized to chromosome 16q24.3 [9] and the group D gene has been localized to chromosome 3 p22-26 [10].