Title: A common Fanconi anemia mutation in black populations of sub-Saharan Africa
Authors: Morgan, Neil V ×
Essop, Fahmida
Demuth, Ilja
de Ravel, Thomy
Jansen, Stander
Tischkowitz, Marc
Lewis, Cathryn M
Wainwright, Linda
Poole, Janet
Joenje, Hans
Digweed, Martin
Krause, Amanda
Mathew, Christopher G #
Issue Date: May-2005
Series Title: Blood vol:105 issue:9 pages:3542-4
Abstract: Fanconi anemia (FA) is a genetically heterogeneous chromosomal instability syndrome associated with multiple congenital abnormalities, aplastic anemia, and cancer. We report that a deletion mutation in the FANCG gene (c.637_643delTACCGCC) was present in 82% of FA patients in the black populations of Southern Africa. These patients originated from South Africa, Swaziland, Mozambique, and Malawi. The mutation was found on the same haplotype and was present in 1% of controls from the black South African population. These data indicate that the birth incidence of FA in this population is higher than 1 in 40 000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa. Diagnostic screening is now possible by means of a simple DNA test.
ISSN: 0006-4971
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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