Classification of Fanconi anemia patients by complementation analysis: Evidence for a fifth genetic subtype

Hans Joenje, Jerome R. Lo Ten Foe, Anneke B. Oostra, Carola G.M. Van Berkel, Martin A. Rooimans, Traute Schroeder-Kurth, Rolf Dieter Wegner, Johan J.P. Gille, Manuel Buchwald, Fré Arwert

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169 Citations (Scopus)


Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups IFA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients.

Original languageEnglish
Pages (from-to)2156-2160
Number of pages5
Issue number6
Publication statusPublished - 15 Sept 1995

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