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

@article{Shore2006ARM,
  title={A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva},
  author={E. Shore and Meiqi Xu and G. Feldman and D. Fenstermacher and Tae-Joon Cho and I. Choi and J. Connor and P. Delai and D. L. Glaser and M. Lemerrer and R. Morhart and John G. Rogers and R. Smith and J. Triffitt and J. A. Urtizberea and M. Zasloff and M. Brown and F. Kaplan},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={525-527}
}
  • E. Shore, Meiqi Xu, +15 authors F. Kaplan
  • Published 2006
  • Medicine, Biology
  • Nature Genetics
  • 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… CONTINUE READING
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