Fibrodysplasia ossificans Progressiva(FOP) Samantha he Medical Genetics 12/31/09
Fibrodysplasia ossificans Progressiva (FOP) Samantha He Medical Genetics 12/31/09
A baffling and rare disease John Ferke of Saint Bartholomews Hospital, 1741 They arise from all over the vertebrae of the neck and reach down to the sacrum they likewise arise from every rib of his body and joining together in all parts of his back, as the ramifications of corals do, they make as it were a fixed bony pair of bodice
A baffling and rare disease John Ferke of Saint Bartholomew’s Hospital, 1741: ‘ …They arise from all over the vertebrae of the neck and reach down to the sacrum; they likewise arise from every rib of his body, and joining together in all parts of his back, as the ramifications of corals do, they make as it were, a fixed bony pair of bodice.’
General overview of fop Soft connective tissue that progressively turn into bone Occurrence: 1 2,000,000 Regardless of gender and ethnicity zoo confirmed cases in the world, 285 known cases in U.S Misdiagnosis rate around 60%80% Cancer Juvenile fibromatosis Median age of survival: 45 years ° Nocure
General overview of FOP • Soft connective tissue that progressively turn into bone • Occurrence: 1 /2,000,000 ▫ Regardless of gender and ethnicity • 700 confirmed cases in the world, 285 known cases in U.S • Misdiagnosis rate around 60%~80% ▫ Cancer ▫ Juvenile Firbromatosis • Median age of survival: 45 years • No cure
a (Kaplan et al. 2008)
(Kaplan et al. 2008)
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 FOP
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 FOP