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Volumn 5, Issue 5, 2014, Pages 201-211

Fibrodysplasia ossificans progressiva: Clinical course, genetic mutations and genotype-phenotype correlation

Author keywords

ACVR1; FOP; Great toe malformations; Heterotopic ossifications; Progressive immobility

Indexed keywords

DISEASE COURSE; EXON; FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; GENE MUTATION; GENETICS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEDICAL LITERATURE; OSSIFYING MYOSITIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

EID: 84906883828     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000365770     Document Type: Review
Times cited : (72)

References (42)
  • 1
    • 84906869714 scopus 로고    scopus 로고
    • Sporadic fibrodysplasia ossifi-cans progressiva in an Egyptian infant with c.617GA mutation in ACVR1 gene: A case report and review of literature
    • Al-Haggar M, Ahmad N, Yahia S, Shams A, Hasa-neen B, et al: Sporadic fibrodysplasia ossifi-cans progressiva in an Egyptian infant with c.617GA mutation in ACVR1 gene: a case report and review of literature. Case Rep Genet 2013: 834605 (2013).
    • (2013) Case Rep Genet , vol.2013 , pp. 834605
    • Al-Haggar, M.1    Ahmad, N.2    Yahia, S.3    Shams, A.4    Hasa-Neen, B.5
  • 3
    • 60749137428 scopus 로고    scopus 로고
    • Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: Confirmations and advancements
    • Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R: Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements. Eur J Hum Genet 17: 311-318 (2009).
    • (2009) Eur J Hum Genet , vol.17 , pp. 311-318
    • Bocciardi, R.1    Bordo, D.2    Di Duca, M.3    Di Rocco, M.4    Ravazzolo, R.5
  • 4
    • 73949145108 scopus 로고    scopus 로고
    • Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossi-ficans progressiva patients
    • Carvalho DR, Navarro MM, Martins BJ, Coelho KE, Mello WD, et al: Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossi-ficans progressiva patients. Clin Genet 77: 171-176 (2010).
    • (2010) Clin Genet , vol.77 , pp. 171-176
    • Carvalho, D.R.1    Navarro, M.M.2    Martins, B.J.3    Coelho, K.E.4    Mello, W.D.5
  • 6
    • 0027403045 scopus 로고
    • The natural history of heterotopic ossification in patients who have fibrodyspla-sia ossificans progressiva: A study of forty-four patients
    • Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, et al: The natural history of heterotopic ossification in patients who have fibrodyspla-sia ossificans progressiva: a study of forty-four patients. J Bone Joint Surg Am 75: 215-219 (1993).
    • (1993) J Bone Joint Surg Am , vol.75 , pp. 215-219
    • Cohen, R.B.1    Hahn, G.V.2    Tabas, J.A.3    Peeper, J.4    Levitz, C.L.5
  • 7
    • 0019945249 scopus 로고
    • Fibrodysplasia ossificans progressiva the clinical features and natural history of 34 patients
    • Connor JM, Evans DA: Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 64: 76-83 (1982).
    • (1982) J Bone Joint Surg Br , vol.64 , pp. 76-83
    • Connor, J.M.1    Evans, D.A.2
  • 9
    • 38849093307 scopus 로고    scopus 로고
    • A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)
    • Furuya H, Ikezoe K, Wang L, Ohyagi Y, Moto-mura K, et al: A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H). Am J Med Genet A 146A:459-463 (2008).
    • (2008) Am J Med Genet A , vol.146 A , pp. 459-463
    • Furuya, H.1    Ikezoe, K.2    Wang, L.3    Ohyagi, Y.4    Moto-Mura, K.5
  • 10
    • 33846004405 scopus 로고    scopus 로고
    • Bone morphogenetic proteins and their antagonists
    • Gazzerro E, Canalis E: Bone morphogenetic proteins and their antagonists. Rev Endocr Metab Disord 7: 51-65 (2006).
    • (2006) Rev Endocr Metab Disord , vol.7 , pp. 51-65
    • Gazzerro, E.1    Canalis, E.2
  • 11
    • 79751537956 scopus 로고    scopus 로고
    • A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia os-sificans progressiva variant reported to date
    • Gregson CL, Hollingworth P, Williams M, Petrie KA, Bullock AN, et al: A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia os-sificans progressiva variant reported to date. Bone 48: 654-658 (2011).
    • (2011) Bone , vol.48 , pp. 654-658
    • Gregson, C.L.1    Hollingworth, P.2    Williams, M.3    Petrie, K.A.4    Bullock, A.N.5
  • 12
    • 34548457296 scopus 로고    scopus 로고
    • Functional modeling of the ACVR1 (R206H) mutation in FOP
    • Groppe JC, Shore EM, Kaplan FS: Functional modeling of the ACVR1 (R206H) mutation in FOP. Clin Orthop Relat Res 462: 87-92 (2007).
    • (2007) Clin Orthop Relat Res , vol.462 , pp. 87-92
    • Groppe, J.C.1    Shore, E.M.2    Kaplan, F.S.3
  • 14
    • 25844510176 scopus 로고    scopus 로고
    • Thoracic insufficiency syndrome in patients with fibrodysplasia ossifi-cans progressiva
    • Kaplan FS, Glaser DL: Thoracic insufficiency syndrome in patients with fibrodysplasia ossifi-cans progressiva. Clin Rev Bone Miner Metab 3: 213-216 (2005).
    • (2005) Clin Rev Bone Miner Metab , vol.3 , pp. 213-216
    • Kaplan, F.S.1    Glaser, D.L.2
  • 15
    • 0027929950 scopus 로고
    • Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans pro-gressiva
    • Kaplan FS, Strear CM, Zasloff MA: Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans pro-gressiva. Clin Orthop Relat Res 238-247 (1994)
    • (1994) Clin Orthop Relat Res , pp. 238-247
    • Kaplan, F.S.1    Strear, C.M.2    Zasloff, M.A.3
  • 17
    • 25844469044 scopus 로고    scopus 로고
    • Immunological features of fibro-dysplasia ossificans progressiva and the dys-regulated BMP4 Pathway
    • Kaplan FS, Shore EM, Gupta R, Billings PC, Gla-ser DL, et al: Immunological features of fibro-dysplasia ossificans progressiva and the dys-regulated BMP4 Pathway. Clin Rev Bone Miner Metab 3: 189-193 (2005b).
    • (2005) Clin Rev Bone Miner Metab , vol.3 , pp. 189-193
    • Kaplan, F.S.1    Shore, E.M.2    Gupta, R.3    Billings, P.C.4    Gla-Ser, D.L.5
  • 18
    • 37249082497 scopus 로고    scopus 로고
    • Mor-phogen receptor genes and metamorpho-genes: Skeleton keys to metamorphosis
    • Kaplan FS, Groppe J, Pignolo RJ, Shore EM: Mor-phogen receptor genes and metamorpho-genes: skeleton keys to metamorphosis. Ann NY Acad Sci 1116: 113-133 (2007).
    • (2007) Ann NY Acad Sci , vol.1116 , pp. 113-133
    • Kaplan, F.S.1    Groppe, J.2    Pignolo, R.J.3    Shore, E.M.4
  • 19
    • 61649084689 scopus 로고    scopus 로고
    • Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphoge-netic protein (BMP) type i receptor ACVR1
    • Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, et al: Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphoge-netic protein (BMP) type I receptor ACVR1. Hum Mutat 30: 379-390 (2009).
    • (2009) Hum Mutat , vol.30 , pp. 379-390
    • Kaplan, F.S.1    Xu, M.2    Seemann, P.3    Connor, J.M.4    Glaser, D.L.5
  • 20
    • 0033142884 scopus 로고    scopus 로고
    • Conductive hearing loss in individuals with fibro-dysplasia ossificans progressiva
    • Levy CE, Lash AT, Janoff HB, Kaplan FS: Conductive hearing loss in individuals with fibro-dysplasia ossificans progressiva. Am J Audiol 8: 29-33 (1999).
    • (1999) Am J Audiol , vol.8 , pp. 29-33
    • Levy, C.E.1    Lash, A.T.2    Janoff, H.B.3    Kaplan, F.S.4
  • 22
    • 85010245367 scopus 로고
    • Hereditable disorders of connective tissue
    • McKusick VA: Hereditable disorders of connective tissue. J Chronic Dis 3: 521-556 (1956).
    • (1956) J Chronic Dis , vol.3 , pp. 521-556
    • McKusick, V.A.1
  • 24
    • 84890614078 scopus 로고    scopus 로고
    • ACVR1 (587TC) mutation in a variant form of fibro-dysplasia ossificans progressiva: Second report
    • Nakahara Y, Katagiri T, Ogata N, Haga N: ACVR1 (587TC) mutation in a variant form of fibro-dysplasia ossificans progressiva: second report. Am J Med Genet A 164A:220-224 (2014).
    • (2014) Am J Med Genet A , vol.164 A , pp. 220-224
    • Nakahara, Y.1    Katagiri, T.2    Ogata, N.3    Haga, N.4
  • 25
    • 34247607292 scopus 로고    scopus 로고
    • The ACVR1 617GA mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans pro-gressiva
    • Nakajima M, Haga N, Takikawa K, Manabe N, Nishimura G, Ikegawa S: The ACVR1 617GA mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans pro-gressiva. J Hum Genet 52: 473-475 (2007).
    • (2007) J Hum Genet , vol.52 , pp. 473-475
    • Nakajima, M.1    Haga, N.2    Takikawa, K.3    Manabe, N.4    Nishimura, G.5    Ikegawa, S.6
  • 26
    • 0031637470 scopus 로고    scopus 로고
    • A case of extraordinary exostoses on the back of a boy. 1740. John Freke (1688-1756)
    • Peltier LF: A case of extraordinary exostoses on the back of a boy. 1740. John Freke (1688-1756). Clin Orthop Relat Res 346: 5-6 (1998).
    • (1998) Clin Orthop Relat Res , vol.346 , pp. 5-6
    • Peltier, L.F.1
  • 27
    • 63749106137 scopus 로고    scopus 로고
    • Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients
    • Petrie KA, Lee WH, Bullock AN, Pointon JJ, Smith R, et al: Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS One 4:e5005 (2009).
    • (2009) PLoS One , vol.4
    • Petrie, K.A.1    Lee, W.H.2    Bullock, A.N.3    Pointon, J.J.4    Smith, R.5
  • 29
    • 82355182537 scopus 로고    scopus 로고
    • Fibrodysplasia ossificans progressiva: Clinical and genetic aspects
    • Pignolo RJ, Shore EM, Kaplan FS: Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 6: 80 (2011).
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 80
    • Pignolo, R.J.1    Shore, E.M.2    Kaplan, F.S.3
  • 30
    • 72949121253 scopus 로고    scopus 로고
    • Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva
    • Ratbi I, Borcciadi R, Regragui A, Ravazzolo R, Se-fiani A: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol 29: 119-121 (2010).
    • (2010) Clin Rheumatol , vol.29 , pp. 119-121
    • Ratbi, I.1    Borcciadi, R.2    Regragui, A.3    Ravazzolo, R.4    Se-Fiani, A.5
  • 31
    • 25844529319 scopus 로고    scopus 로고
    • Developmental anomalies of the cervical spine in patients with fibrodys-plasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: Clues from the BMP signaling pathway
    • Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, et al: Developmental anomalies of the cervical spine in patients with fibrodys-plasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine 30: 1379-1385 (2005).
    • (2005) Spine , vol.30 , pp. 1379-1385
    • Schaffer, A.A.1    Kaplan, F.S.2    Tracy, M.R.3    O'Brien, M.L.4    Dormans, J.P.5
  • 32
    • 70449366408 scopus 로고    scopus 로고
    • The fibrodysplasia ossificans progressive R206H ACVR1 mutation activates BMP independent chondrogenesis and zebrafish embargo ven-tralization
    • Shen Q, Little SC, Xu M, Haupt J, Ast C, et al: The fibrodysplasia ossificans progressive R206H ACVR1 mutation activates BMP independent chondrogenesis and zebrafish embargo ven-tralization. J Clin Invest 119: 3462-3472 (2009).
    • (2009) J Clin Invest , vol.119 , pp. 3462-3472
    • Shen, Q.1    Little, S.C.2    Xu, M.3    Haupt, J.4    Ast, C.5
  • 33
    • 0038682002 scopus 로고    scopus 로고
    • Mechanisms of TGF-β signaling from cell membrane to the nucleus
    • Shi Y, Massagué J: Mechanisms of TGF-β signaling from cell membrane to the nucleus. Cell 13; 113:685-700 (2003).
    • (2003) Cell , vol.13 , Issue.113 , pp. 685-700
    • Shi, Y.1    Massagué, J.2
  • 35
    • 33646348736 scopus 로고    scopus 로고
    • A recurrent mutation in the BMP type i receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans pro-gressiva
    • Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, et al: A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans pro-gressiva. Nat Genet 38: 525-527 (2006).
    • (2006) Nat Genet , vol.38 , pp. 525-527
    • Shore, E.M.1    Xu, M.2    Feldman, G.J.3    Fenstermacher, D.A.4    Cho, T.J.5
  • 36
    • 0017280995 scopus 로고
    • Myositis ossifi-cans progressiva. Clinical features of eight patients and their response to treatment
    • Smith R, Russell RG, Woods CG: Myositis ossifi-cans progressiva. Clinical features of eight patients and their response to treatment. J Bone Joint Surg Br 58: 48-57 (1976).
    • (1976) J Bone Joint Surg Br , vol.58 , pp. 48-57
    • Smith, R.1    Russell, R.G.2    Woods, C.G.3
  • 38
    • 34250019537 scopus 로고
    • Bone: Formation by autoinduction
    • Urist MR: Bone: formation by autoinduction. Science 150: 893-899 (1965).
    • (1965) Science , vol.150 , pp. 893-899
    • Urist, M.R.1
  • 39
    • 0032777801 scopus 로고    scopus 로고
    • Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva
    • Virdi AS, Shore EM, Oreffo RO, Li M, Connor JM, et al: Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. Calcif Tissue Int 65: 250-255 (1999).
    • (1999) Calcif Tissue Int , vol.65 , pp. 250-255
    • Virdi, A.S.1    Shore, E.M.2    Oreffo, R.O.3    Li, M.4    Connor, J.M.5
  • 40
    • 34249815542 scopus 로고    scopus 로고
    • Bone morphogenetic protein signaling in stem cells-one signal, many consequences
    • Wagner TU: Bone morphogenetic protein signaling in stem cells-one signal, many consequences. FEBS J 274: 2968-2976 (2007).
    • (2007) FEBS J , vol.274 , pp. 2968-2976
    • Wagner, T.U.1
  • 41
    • 0024256133 scopus 로고
    • Novel regulators of bone formation: Molecular clones and activities
    • Wozney JM, Rosen V, Celeste AJ, Mitsock LM, Whitters MJ, et al: Novel regulators of bone formation: molecular clones and activities. Science 242: 1528-1534 (1988).
    • (1988) Science , vol.242 , pp. 1528-1534
    • Wozney, J.M.1    Rosen, V.2    Celeste, A.J.3    Mitsock, L.M.4    Whitters, M.J.5
  • 42
    • 84884915956 scopus 로고    scopus 로고
    • The phenotype and genotype of fibrodyspla-sia ossificans progressiva in China: A report of 72 cases
    • Zhang W, Zhang K, Song L, Pang J, Ma H, et al: The phenotype and genotype of fibrodyspla-sia ossificans progressiva in China: a report of 72 cases. Bone 57: 386-391 (2013).
    • (2013) Bone , vol.57 , pp. 386-391
    • Zhang, W.1    Zhang, K.2    Song, L.3    Pang, J.4    Ma, H.5


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