Genetics of fop Discovered in 2006 Heritable in typical autosomal dominant pattern Low reproductive fitness Complete penetrance Phenotype: Heterotopic OssificanS (HO) Heterotopic= misplaced Heterozygous point mutation on Activin Receptor IA (ACVR1) gene Novel mutations cause atypical FOPGenetics of FOP • Discovered in 2006 • Heritable in typical autosomal dominant pattern • Low reproductive fitness • Complete penetrance • Phenotype: Heterotopic Ossificans (HO) ▫ Heterotopic = misplaced • Heterozygous point mutation on Activin Receptor IA (ACVR1) gene ▫ Novel mutations cause atypical FOP