Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype

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 unrelat...

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Bibliographic Details
Published in:Blood 1995-09, Vol.86 (6), p.2156-2160
Main Authors: Joenje, Hans, Foe, Jerome R.Lo Ten, Oostra, Anneke B., Berkel, Carola G.M. van, Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf-Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fre
Format: Article
Language:English
Subjects:
Anemias. Hemoglobinopathies
Biological and medical sciences
Cell Fusion
Cell Line
Chromosome Aberrations
Diseases of red blood cells
Fanconi Anemia - classification
Fanconi Anemia - genetics
Fanconi Anemia - pathology
Genes, Recessive
Genetic Complementation Test
Hematologic and hematopoietic diseases
Humans
Infant, Newborn
Lymphocytes - ultrastructure
Male
Medical sciences
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Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V86.6.2156.bloodjournal8662156