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

@article{Dandara2012ConfirmationOT,
  title={Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressiva.},
  author={Collet Dandara and Chris Scott and Mike F Urban and Karen J Fieggen and Regan Arendse and Peter Beighton},
  journal={South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde},
  year={2012},
  volume={102 7},
  pages={631-3}
}
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… CONTINUE READING