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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

Nature genetics

Publication Date

05/2006

Volume

38

Pages

525 - 527

Addresses

Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. shore@mail.med.upenn.edu

Keywords

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