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

Shore, Eileen M., Xu, Meiqi, Feldman, George J., Fenstermacher, David A., Brown, Matthew A., Kaplan, Frederick S., Cho, Tae-Joon, Choi, In Ho, Connor, J. Michael, Delai, Patricia, Zasloff, Michael, Glaser, David L., LeMerrer, Martine, Smith, Roger, Morhart, Rolf, Rogers, John G., Triffitt, James T. and Urtizberea, J. Andoni (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics, 38 5: 525-527.


Author Shore, Eileen M.
Xu, Meiqi
Feldman, George J.
Fenstermacher, David A.
Brown, Matthew A.
Kaplan, Frederick S.
Cho, Tae-Joon
Choi, In Ho
Connor, J. Michael
Delai, Patricia
Zasloff, Michael
Glaser, David L.
LeMerrer, Martine
Smith, Roger
Morhart, Rolf
Rogers, John G.
Triffitt, James T.
Urtizberea, J. Andoni
Title A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2006
Sub-type Article (original research)
DOI 10.1038/ng1783
Volume 38
Issue 5
Start page 525
End page 527
Total pages 3
Editor M. Axton
Place of publication New York
Publisher Nature Publishing Group
Collection year 2006
Language eng
Subject C1
320204 Immunogenetics
730114 Skeletal system and disorders (incl. arthritis)
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.
Keyword Genetics & Heredity
Disorder
Inhibitor
Fop
Q-Index Code C1

 
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Created: Fri, 25 Jan 2008, 16:50:16 EST