A common Fanconi anemia mutation in black populations of sub-Saharan Africa

Blood. 2005 May 1;105(9):3542-4. doi: 10.1182/blood-2004-10-3968. Epub 2005 Jan 18.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa South of the Sahara / epidemiology
  • Base Sequence
  • Blacks / genetics
  • Cell Cycle Proteins / genetics*
  • DNA-Binding Proteins / genetics*
  • Fanconi Anemia / epidemiology
  • Fanconi Anemia / genetics*
  • Fanconi Anemia Complementation Group G Protein
  • Fanconi Anemia Complementation Group Proteins
  • Founder Effect
  • Haplotypes
  • Humans
  • Incidence
  • Molecular Epidemiology
  • Nuclear Proteins / genetics*
  • Sequence Deletion

Substances

  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • FANCG protein, human
  • Fanconi Anemia Complementation Group G Protein
  • Fanconi Anemia Complementation Group Proteins
  • Nuclear Proteins