title: A common Fanconi anemia mutation in black populations of sub-Saharan Africa.
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.
authors.affiliation: Department of Medical and Molecular Genetics, Guy's Hospital, 8th Floor, Guy's Tower, London SE1 9RT, United Kingdom.
authors.forename: Neil V
authors.initials: NV
authors.lastname: Morgan
authors.forename: Fahmida
authors.initials: F
authors.lastname: Essop
authors.forename: Ilja
authors.initials: I
authors.lastname: Demuth
authors.forename: Thomy
authors.initials: T
authors.lastname: de Ravel
authors.forename: Stander
authors.initials: S
authors.lastname: Jansen
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
authors.forename: Cathryn M
authors.initials: CM
authors.lastname: Lewis
authors.forename: Linda
authors.initials: L
authors.lastname: Wainwright
authors.forename: Janet
authors.initials: J
authors.lastname: Poole
authors.forename: Hans
authors.initials: H
authors.lastname: Joenje
authors.forename: Martin
authors.initials: M
authors.lastname: Digweed
authors.forename: Amanda
authors.initials: A
authors.lastname: Krause
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Mathew
mesh_terms: 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
chemical_list: 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