Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva

  • Collet Dandara
  • Chris Scott
  • Mike Urban
  • Karen Fieggen
  • Regan Arendse
  • Peter Beighton

Abstract

Objective. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition in which progressive ossification of fibrous tissue, tendons and ligaments leads to severe physical handicap. Most affected individuals who have been studied have a recurrent 617G>A mutation in the ACVR1/ALK2 gene that codes for activin A type 1 receptor/activin-like kinase 2. The majority of publications on the genetics of FOP have concerned whites or Asians, and no genetic information is available concerning sub-Saharan blacks. The aim of the project was to determine whether or not this mutation is present in affected persons in South Africa.
Method. Molecular mutational analysis was undertaken on genomic DNA from peripheral blood leukocytes from 6 affected South Africans of different population groups (4 Xhosa, 1 coloured, 1 white).
Results. The 6 persons with FOP were all heterozygous for the ACVR1/ALK2 617G>A mutation. This mutation was absent in 6 controls.
Conclusion. Confirmation of the presence of this recurrent mutation facilitates diagnostic accuracy in affected persons in South Africa, and allows researchers to narrow the search for molecular targets for rational intervention to the ACVR1/ALK2 domain.

S Afr Med J 2012;102(7):631-633

Author Biographies

Collet Dandara
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town Medical School
Chris Scott
Department of Paediatrics, Red Cross War Memorial Children’s Hospital and University of Cape Town Medical School
Mike Urban
Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, Stellenbosch University
Karen Fieggen
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town Medical School
Regan Arendse
Division of Rheumatology, University of Cape Town and Groote Schuur Hospital
Peter Beighton
Division of Human Genetics, Faculty of Health Sciences, University of Cape Town Medical School
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Articles

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eISSN: 0256-95749
print ISSN: 2078-5135