Fanconi anemia.
Fanconi anemia is a phenotypically and genotypically heterogeneous syndrome in which patients manifest various congenital abnormalities, bone marrow failure, and predisposition to malignancy. The primary dermatologic manifestations are pigmentation abnormalities (hyperpigmentation, hypopigmentation, café-au-lait spots) and cutaneous malignancies. The gene for one of the complementation groups (FACC) has been cloned, and the gene product has been shown to have a cytoplasmic localization, ruling out a direct role for the Fanconi anemia gene in DNA repair. A better understanding of the function of the FACC polypeptide, and the cloning of genes for the other Fanconi anemia complementation groups, should lead to a better understanding of the basic problems of birth defects and cancer predisposition and the interaction of genetic and epigenetic factors in the pathogenesis of these problems.
Auerbach
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AD
Laboratory for Investigative Dermatology, Rockefeller University, New York, New York, USA.
D001855:Bone Marrow Diseases / Q000473:pathology; D018797:Cell Cycle Proteins; D003593:Cytoplasm / Q000378:metabolism; D004268:DNA-Binding Proteins; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D051856:Fanconi Anemia Complementation Group Proteins; D006801:Humans; D009687:Nuclear Proteins; D010859:Pigmentation Disorders / Q000473:pathology; D011230:Precancerous Conditions / Q000473:pathology*; D011506:Proteins / Q000032:analysis / Q000235:genetics; D012878:Skin Neoplasms / Q000473:pathology
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins