Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease of the connective tissue, considered to affect around 1 in 2 million people. A mutation of the body's repair mechanism causes fibrous tissue (including muscle, tendon, and ligament) to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place.Wikipedia

Dominantly inherited mutations in the ACVR1 gene lead to FOP, and only a few are known at this time, including:

• rs121912678, Arg206His
• rs121912679, Gly356Asp
• rs121912680, Arg258Ser
• rs387906588, Gly328Arg and Gly328Trp
• rs387906589, Gly328Glu
• rs387906590, Arg375Pro
• rs387906591, Arg202Ile
• rs797045135, Leu196Pro

Working in a mouse model of FOP, researchers at Regeneron reported in September 2015 that an antibody that blocks the ligand activin A effectively stopped abnormal bone formation.10.1126/scitranslmed.aac4358

Clinical utility gene card available:[PMID 25604857]