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Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.

Original publication

DOI

10.1038/ng1783

Type

Journal article

Journal

Nat genet

Publication Date

05/2006

Volume

38

Pages

525 - 527

Keywords

Activin Receptors, Type I, Amino Acid Sequence, Animals, Chromosomes, Human, Pair 2, Female, Humans, Male, Molecular Sequence Data, Mutation, Myositis Ossificans, Pedigree, RNA, Messenger, Sequence Homology, Amino Acid