Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

Nathalie Bravenboer¹, Dimitra Micha¹, James T Triffit², Alex N Bullock³, Roberto Ravazollo⁴, Renata Bocciardi⁵, Maja di Rocco⁵, J Coen Netelenbos¹, Peter Ten Dijke⁶, Gonzalo Sánchez-Duffhues⁶, Fred S Kaplan⁷, Eileen M Shore⁷, Robert J Pignolo⁷, Petra Seemann⁸, Francesc Ventura⁹, Genevieve Beaujat¹⁰, Elizabeth M W Eekhoff¹, Gerard Pals¹

Affiliations

¹ Departments of Clinical Genetics, Clinical Chemistry and Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands.
² Botnar Research Centre, University of Oxford, Oxford, UK.
³ Structural Genomics Consortium, University of Oxford, Oxford, UK.
⁴ Department of Neusoscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and CEBR, Genova, Italy.
⁵ Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute, Genoa, Italy.
⁶ Department of Molecular Cell Biology, Cancer Genomics Centre Netherlands and Centre for Biomedical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁷ The Center for Research in FOP and Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁸ Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁹ Departament de Ciències Fisiològiques II, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
¹⁰ Centre de Référence Maladies Osseuses Constitutionnelles, Département de Génétique, Hôpital Necker-Enfants malades, Paris, France.

PMID: 25604857
PMCID: PMC4592076
DOI: 10.1038/ejhg.2014.274

Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

Nathalie Bravenboer et al. Eur J Hum Genet. 2015 Oct.

. 2015 Oct;23(10):1431.

doi: 10.1038/ejhg.2014.274. Epub 2015 Jan 21.

Authors

Affiliations

¹ Departments of Clinical Genetics, Clinical Chemistry and Internal Medicine, VU University Medical Center, Amsterdam, The Netherlands.
² Botnar Research Centre, University of Oxford, Oxford, UK.
³ Structural Genomics Consortium, University of Oxford, Oxford, UK.
⁴ Department of Neusoscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and CEBR, Genova, Italy.
⁵ Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute, Genoa, Italy.
⁶ Department of Molecular Cell Biology, Cancer Genomics Centre Netherlands and Centre for Biomedical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
⁷ The Center for Research in FOP and Related Disorders, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁸ Berlin Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany.
⁹ Departament de Ciències Fisiològiques II, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
¹⁰ Centre de Référence Maladies Osseuses Constitutionnelles, Département de Génétique, Hôpital Necker-Enfants malades, Paris, France.

PMID: 25604857
PMCID: PMC4592076
DOI: 10.1038/ejhg.2014.274

No abstract available

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References

1. 1Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L et al: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 2009; 30: 379–390. - PMC - PubMed
1. 2Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH et al: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 2006; 38: 525–527. - PubMed
1. 3Kaplan FS, Pignolo RJ, Shore EM: The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling. Cytokine Growth Factor Rev 2009; 20: 399–407. - PMC - PubMed
1. 4Haupt J, Deichsel A, Stange K, Ast C, Bocciardi R, Ravazzolo R et al: ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant. Hum Mol Genet 2014; 23:5364–5377. - PMC - PubMed
1. 5Pignolo RJ, Shore EM, Kaplan FS: Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 2011; 6: 80. - PMC - PubMed

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva

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