Ontology highlight
ABSTRACT:
SUBMITTER: Kaplan J
PROVIDER: S-EPMC3390458 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Kaplan J J Kaplan F S FS Shore E M EM
Gene therapy 20111020 7
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of progressive heterotopic ossification for which there is presently no cure. FOP is caused by a recurrent heterozygous activating mutation (c.617G>A; R206H) of Activin receptor type IA/Activin-like kinase-2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor that occurs in all classically affected individuals. The FOP mutation dysregulates BMP signaling and initiates the formation of a disabling secon ...[more]