Abstract
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. We report the case of a Moroccan patient with FOP carrying a rarely occurring mutation of ACVR1 gene.
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References
Kaplan FS, Glaser DL, Hebela N et al (2004) Heterotopic ossification. J Am Acad Orthop Surg 12:116–125
Connor JM (1996) Fibrodysplasia ossificans progressiva—lessons from rare malides. N Engl J Med 335:591–593
Smith R (1998) Fibrodysplasia ossificans progressiva: clinical lessons from a rare disease. Clin Orthop 346:7–13
Pignolo RJ, Suda RK, Kaplan FS (2005) The fibrodysplasia ossificans progressiva lesion. Clin Rev Bone Miner Metab 3:195–200
Kaplan FS, Galser DL, Shore EM et al (2005) The phenotype of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab 3:201–204
Shore EM, Xu M, Feldman GJ et al (2006) A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38:525–527
Kaplan FS, Xu M, Seemann P et al (2009) Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat 30(3):379–390
Chen D, Zhao M, Mundy GR (2004) Bone morphogenetic proteins. Growth Factors 22:233–241
Nakajima M, Haga N, Takikawa K et al (2007) The ACVR1 617G4A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet 52:473–475
Furuya H, Ikezoe K, Wang L et al (2008) A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet 146A:459–463
Bocciardi R, Bordo D, Di Duca M et al (2009) Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet 17(3):311–318
Sambrook J, Fritsch EF, Maniatis T (1989) Isolation of DNA from mammalian cells. In: Sambrook J, Fritsch EF, Maniatis T (eds) Molecular cloning—a laboratory manual. Cold Spring Harbor Laboratory Press, New York
Goldman AB (2002) Heritable diseases of connective tissue, epiphyseal dysplasias, and related conditions. In: Resnick D (ed) Diagnosis of bone and joint disorders. W.B. Saunders, Philadelphia
Levy CE, Lash AT, Janoff HB, Kaplan FS (1999) Conductive hearing loss in individuals with fibrodyslasia ossificans progressive. Am J Audiol 8:29–33
Lin GT, Chang HW, Liu CS et al (2006) De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva. J Hum Genet 51:1083–1086
Delai PLR, Kantanie S, Santili C et al (2004) Fibrodysplasia ossificans progressiva: a hereditary illness of multidisciplinary interest. Rev Bras Ortop 39:205–213
Acknowledgments
We thank the patient and his family. We are grateful to Professors Martine Lemerrer and Frederick Kaplan for their help. Misters Yassine, Mohamed Kaouhaji, Rachid lakhal, and Jamal Ouahbi are thanked for their support.
This work has been supported by LIA INSERM/CNRST.
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Ratbi, I., Borcciadi, R., Regragui, A. et al. Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol 29, 119–121 (2010). https://doi.org/10.1007/s10067-009-1283-z
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DOI: https://doi.org/10.1007/s10067-009-1283-z