| Literature DB >> 16642017 |
Eileen M Shore1, Meiqi Xu, George J Feldman, David A Fenstermacher, Tae-Joon Cho, In Ho Choi, J Michael Connor, Patricia Delai, David L Glaser, Martine LeMerrer, Rolf Morhart, John G Rogers, Roger Smith, James T Triffitt, J Andoni Urtizberea, Michael Zasloff, Matthew A Brown, Frederick S Kaplan.
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.Entities:
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Year: 2006 PMID： 16642017 DOI： 10.1038/ng1783
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330