Human Genetics

, Volume 111, Issue 4, pp 331–338

Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

  • Olivier Le Saux
  • Konstanze Beck
  • Christine Sachsinger
  • Carina Treiber
  • Harald H. Göring
  • Katie Curry
  • Eric W. Johnson
  • Lionel Bercovitch
  • Anna-Susan Marais
  • Sharon F. Terry
  • Denis L. Viljoen
  • Charles D. Boyd
Original Investigation

DOI: 10.1007/s00439-002-0808-1

Cite this article as:
Le Saux, O., Beck, K., Sachsinger, C. et al. Hum Genet (2002) 111: 331. doi:10.1007/s00439-002-0808-1

Abstract.

Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 (MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single base-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population.

Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Olivier Le Saux
    • 1
  • Konstanze Beck
    • 1
  • Christine Sachsinger
    • 1
  • Carina Treiber
    • 1
  • Harald H. Göring
    • 2
  • Katie Curry
    • 3
  • Eric W. Johnson
    • 3
  • Lionel Bercovitch
    • 4
  • Anna-Susan Marais
    • 5
  • Sharon F. Terry
    • 6
  • Denis L. Viljoen
    • 7
  • Charles D. Boyd
    • 1
  1. 1.Pacific Biomedical Research Center, University of Hawai'i, Honolulu, Hawaii, USA
  2. 2.Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Tex., USA
  3. 3.Barrow Neurological Institute, Phoenix, Ariz., USA
  4. 4.Department of Dermatology, Brown University, Providence, R.I., USA
  5. 5.PXE International (South Africa), Mowbray, South Africa
  6. 6.PXE International, Sharon, Mass., USA
  7. 7.Department of Human Genetics, University of Witwatersrand, Johannesburg, South Africa