Ontology highlight
ABSTRACT:
SUBMITTER: Huning I
PROVIDER: S-EPMC4188166 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Hüning Irina I Gillessen-Kaesbach Gabriele G
Molecular syndromology 20140807 5
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant genetic disorder and the most disabling condition of heterotopic (extraskeletal) ossification in humans. Mutations in the ACVR1 gene (MIM 102576) were identified as a genetic cause of FOP [Shore et al., 2006]. Most patients with FOP have the same recurrent single nucleotide change c.617G>A, p.R206H in the ACVR1 gene. Furthermore, 11 other mutations in the ACVR1 gene have been described as a cause of FOP. Here, w ...[more]