ACVR1 gene mutations in four Turkish patients diagnosed as fibrodysplasia ossificans progressiva

Gene. 2013 Feb 25;515(2):444-6. doi: 10.1016/j.gene.2012.12.005. Epub 2012 Dec 20.


Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized with congenital malformations of the great toes and progressive heterotopic ossifications in the skeletal muscles and soft tissue. FOP has been associated with a specific point mutation on the ACVR1 (Activin A receptor type I) gene. Four sporadic cases clinically diagnosed as FOP have been included in this study for mutational analysis. In three patients, heterozygote c.617G>A; p.R206H mutation was detected by both DNA sequence analyses and by HphI restrictive enzyme digestion. In the fourth patient, a heterozygote c.774G>T; p.R258S mutation in exon 5 was detected by DNA sequence analysis.

MeSH terms

  • Activin Receptors, Type I / genetics*
  • Adolescent
  • Adult
  • Base Sequence
  • DNA Mutational Analysis
  • Ecdysterone / analogs & derivatives
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense*
  • Myositis Ossificans / genetics*
  • Polymorphism, Single Nucleotide
  • Young Adult


  • Ecdysterone
  • turkesterone
  • ACVR1 protein, human
  • Activin Receptors, Type I