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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva |
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| Authors: | Shore Eileen M Xu Meiqi Feldman George J Fenstermacher David A Cho Tae-Joon Choi In Ho Connor J Michael Delai Patricia Glaser David L LeMerrer Martine Morhart Rolf Rogers John G Smith Roger Triffitt James T Urtizberea J Andoni Zasloff Michael Brown Matthew A Kaplan Frederick S |
| Institution: | Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. shore@mail.med.upenn.edu |
| Abstract: | 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. |
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