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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.
Nat Genet. 2006 May; 38(5):525-7.NGen

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.

Authors+Show Affiliations

Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. shore@mail.med.upenn.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16642017

Citation

Shore, Eileen M., et al. "A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodysplasia Ossificans Progressiva." Nature Genetics, vol. 38, no. 5, 2006, pp. 525-7.
Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006;38(5):525-7.
Shore, E. M., Xu, M., Feldman, G. J., Fenstermacher, D. A., Cho, T. J., Choi, I. H., Connor, J. M., Delai, P., Glaser, D. L., LeMerrer, M., Morhart, R., Rogers, J. G., Smith, R., Triffitt, J. T., Urtizberea, J. A., Zasloff, M., Brown, M. 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), 525-7.
Shore EM, et al. A Recurrent Mutation in the BMP Type I Receptor ACVR1 Causes Inherited and Sporadic Fibrodysplasia Ossificans Progressiva. Nat Genet. 2006;38(5):525-7. PubMed PMID: 16642017.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. AU - Shore,Eileen M, AU - Xu,Meiqi, AU - Feldman,George J, AU - Fenstermacher,David A, AU - Cho,Tae-Joon, AU - Choi,In Ho, AU - Connor,J Michael, AU - Delai,Patricia, AU - Glaser,David L, AU - LeMerrer,Martine, AU - Morhart,Rolf, AU - Rogers,John G, AU - Smith,Roger, AU - Triffitt,James T, AU - Urtizberea,J Andoni, AU - Zasloff,Michael, AU - Brown,Matthew A, AU - Kaplan,Frederick S, Y1 - 2006/04/23/ PY - 2005/12/22/received PY - 2006/03/15/accepted PY - 2006/4/28/pubmed PY - 2006/8/2/medline PY - 2006/4/28/entrez SP - 525 EP - 7 JF - Nature genetics JO - Nat Genet VL - 38 IS - 5 N2 - 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. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/16642017/A_recurrent_mutation_in_the_BMP_type_I_receptor_ACVR1_causes_inherited_and_sporadic_fibrodysplasia_ossificans_progressiva_ L2 - https://doi.org/10.1038/ng1783 DB - PRIME DP - Unbound Medicine ER -