Article
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Nature genetics - 1 May 2006
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
Abstract excerpt
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...
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