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Brief Communication
Nature Genetics - 38, 525 - 527 (2006)
Published online: 23 April 2006; Corrected online: 31 December 2006 | doi:10.1038/ng1783


There is a Corrigendum (February 2007) associated with this Brief Communication.

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

Eileen M Shore1, 2, 3, Meiqi Xu1, 2, George J Feldman1, 2, David A Fenstermacher4, 5, 6, Tae-Joon Cho7, In Ho Choi7, J Michael Connor8, Patricia Delai9, David L Glaser1, 2, Martine LeMerrer10, Rolf Morhart11, John G Rogers12, Roger Smith13, James T Triffitt14, J Andoni Urtizberea15, Michael Zasloff1, 2, 16, 17, Matthew A Brown14, 18 & Frederick S Kaplan1, 2, 19

1  Center for Research in FOP and Related Disorders, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

2  Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

3  Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

4  Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

5  Abramson Cancer Center, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

6  Biomedical Informatics Facility, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

7  Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, 28 Yeongeon-dong, Jongno-gu, Seoul, 110-744, Republic of Korea

8  Division of Developmental Medicine, Institute of Medical Genetics, University of Glasgow Medical School, Yorkhill Academic Campus, Glasgow G3 8SJ, Scotland, UK

9  Department of Orthopaedic Surgery, Santa Casa de Misericórdia de São Paulo School of Medicine, Rua Dr. Cesário Motta Jr. 112, Cep: 01221-020, São Paulo, Brazil

10  Department of Genetics, Hôpital Necker-Enfants Malades, INSERM U-781, 149 Rue de Sèvres, 75015 Paris, France

11  Department of Pediatrics, Klinikum Garmisch-Partenkirchen GmbH, D-82467 Garmisch-Partenkirchen, Germany

12  Genetic Health Services Victoria, Department of Genetics, Royal Children's Hospital, Melbourne, Australia.

13  Nuffield Department of Orthopaedic Surgery, Nuffield Orthopaedic Centre, Windmill Road, Headington, Oxford OX3 7LD, UK

14  Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Oxford OX3 7LD, UK

15  Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Marin, 64700 Hendaye, France

16  Department of Surgery, Georgetown University School of Medicine, Washington, DC 20057, USA

17  Department of Pediatrics, Georgetown University School of Medicine, Washington, DC 20057, USA

18  Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia.

19  Department of Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

Correspondence should be addressed to Eileen M Shore shore@mail.med.upenn.edu or Frederick S Kaplan Frederick.Kaplan@uphs.upenn.edu

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 right arrow 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.
NOTE: In the version of this article initially published, several contributing authors were listed collectively under the name The International FOP Research Consortium. In order to facilitate the electronic citation of author contributions, the authors have chosen to delete the Consortium name and replace it with the names of the individual consortium authors in alphabetical order. This error has been corrected in the HTML and PDF versions of the article.

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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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