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Brief Communication

Nature Genetics 38, 525–527 (1 May 2006) | doi:10.1038/ng1783

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

Eileen M Shore , 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

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 |[rarr]| A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined.