Bone Abstracts

Hereditary multiple osteochondromas (HMO) is an autosomal dominant rare genetic disorder due to LOF heterozygous mutations in EXT1 or EXT2 genes. HMO is an unmet medical condition where patients often requiring multiple surgeries. HMO is characterized by painful cartilaginous capped bony outgrowths at the growth plate (GP) regions of long bones, ribs and other skeletal elements. The molecular mechanism by which these mutations lead to disease is unknown. Mutations in EXT1 and ...

Fibrodysplasia ossificans progressiva (FOP) is a rare debilitating genetic disease characterized by abnormal progressive heterotopic endochondrial ossification of soft tissues. FOP results from mutations in the intracellular domain of the type I BMP receptor ACVR1 (ALK2) the most common of which is R206H. FOP mutations alter the sensitivity of ACVR1 to Activin A from an antagonist to an agonist. We have previously shown that Activin A is necessary and sufficient for driving he...