FANCONIS-ANEMIA - WHAT HAVE WE LEARNED FROM THE GENES SO FAR

Fanconi's anemia (FA) is a rare genetic disorder affecting children at an early age; patients suffer from progressive bone marrow failure an d, in many cases, from congenital malformations. as cells from FA pati ents have an increased sensitivity to UNA-crosslinking agents, FA has been included among the group of DNA repair disorders. However, identi fication of a specific DNA repair defect in FA has not been firmly est ablished, None the less, this cellular phenotype has allowed the class ification of FA patients into eight complementation groups defining ei ght possible FA genes. Two of these genes have now been cloned and, al though they have raised more questions than they have answered, are fa cilitating the identification of cellular processes implicated in the pathophysiology of Fk, and the design of new therapies.