Publications

Detailed Information

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

Cited 811 time in Web of Science Cited 862 time in Scopus
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

Issue Date
2006
Publisher
Nature Publishing Group
Citation
Nat. Genet. 38, 525-527
Keywords
Activin Receptors, Type I/chemistry/*geneticsAmino Acid SequenceChromosomes, Human, Pair 2Molecular Sequence DataMyositis Ossificans/*geneticsPedigreeRNA, Messenger/geneticsSequence Homology, Amino AcidMutation
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.
ISSN
1061-4036 (Print)
Language
English
URI
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16642017

https://hdl.handle.net/10371/10903
DOI
https://doi.org/10.1038/ng1783
Files in This Item:
There are no files associated with this item.
Appears in Collections:

Altmetrics

Item View & Download Count

  • mendeley

Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.

Share