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Classification of Fanconi anemia patients by complementation analysis:
evidence for a fifth genetic subtype
H Joenje, JR Lo ten Foe, AB Oostra, CG van Berkel, MA Rooimans, T Schroeder- Kurth, RD Wegner, JJ Gille, M Buchwald and F Arwert
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
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 (FA-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.
Volume 86,
Issue 6,
pp. 2156-2160,
09/15/1995
Copyright © 1995 by The American Society of Hematology
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