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

Shore, E. M., Xu, M., Feldman, G. J., Fenstermacher, D. A., Brown, Matthew A., & Kaplan, F. S. (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nature Genetics, 38(5), pp. 525-527.

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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.

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ID Code: 89477
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :365 Export Date: 21 September 2015 CODEN: NGENE Correspondence Address: Shore, E.M.; Center for Research in FOP and Related Disorders, University of Pennsylvania, School of Medicine, Philadelphia, PA 19104, United States; email: shore@mail.med.upenn.edu
Keywords: bone morphogenetic protein, procollagen c proteinase, arthrodesis, article, autosomal dominant disorder, bone malformation, DNA sequence, gene mapping, gene mutation, genome analysis, genotype, human, linkage analysis, ossifying myositis, priority journal, protein domain, protein stability, rare disease, sequence analysis, Activin Receptors, Type I, Amino Acid Sequence, Animals, Chromosomes, Human, Pair 2, Female, Humans, Male, Molecular Sequence Data, Mutation, Myositis Ossificans, Pedigree, RNA, Messenger, Sequence Homology, Amino Acid
DOI: 10.1038/ng1783
ISSN: 1061-4036
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: © 2006 Nature Publishing Group
Deposited On: 25 Oct 2015 23:55
Last Modified: 16 Feb 2016 04:16

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