A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
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.
Morgan
Neil V
NV
Department of Medical and Molecular Genetics, Guy's Hospital, 8th Floor, Guy's Tower, London SE1 9RT, United Kingdom.
Essop
Fahmida
F
Demuth
Ilja
I
de Ravel
Thomy
T
Jansen
Stander
S
Tischkowitz
Marc
M
Lewis
Cathryn M
CM
Wainwright
Linda
L
Poole
Janet
J
Joenje
Hans
H
Digweed
Martin
M
Krause
Amanda
A
Mathew
Christopher G
CG
D017954:Africa South of the Sahara / Q000453:epidemiology; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005199:Fanconi Anemia / Q000453:epidemiology / Q000235:genetics*; D052241:Fanconi Anemia Complementation Group G Protein; D051856:Fanconi Anemia Complementation Group Proteins; D018703:Founder Effect; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D017720:Molecular Epidemiology; D009687:Nuclear Proteins / Q000235:genetics*; D017384:Sequence Deletion
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C499909:FANCG protein, human; D052241:Fanconi Anemia Complementation Group G Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins