[Home ] [Archive]   [ فارسی ]  
:: Main :: About :: Current Issue :: Archive :: Search :: Submit :: Contact ::
Main Menu
Journal Information::
Indexing Sources::
Editorial Board::
Executive Members::
Articles Archive::
Instruction to Authors::
Contact Us::
Site Facilities::
Search in website

Advanced Search
Receive site information
Enter your Email in the following box to receive the site news and information.
:: Volume 19, Issue 3 (10-2017) ::
J Gorgan Univ Med Sci 2017, 19(3): 111-115 Back to browse issues page
Fibrodysplasia ossificans progressive: A case report
M Oladnabi * 1, T Haddadi2 , A Kianmehr3 , N Mansour Samaei4 , M Aghaie5
1- Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran , oladnabidozin@yahoo.com
2- Nurse, Sayad Shirazi Hospital, Golestan University of Medical Sciences, Gorgan, Iran
3- Assistant Professor, Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
4- Assistant Professor, Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran
5- Associate Professor, Department of Internal Medicine, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
Abstract:   (8251 Views)
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type-1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years.
Keywords: Fibrodysplasia ossificans progressiva, ACVR1, Autosomal dominant
Full-Text [PDF 226 kb] [English Abstract]   (11841 Downloads) |   |   Abstract (HTML)  (835 Views)  
Type of Study: Case Report | Subject: Internal Medicine
1. Gregson CL, Hollingworth P, Williams M, Petrie KA, Bullock AN, Brown MA, et al. A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date. Bone. 2011 Mar; 48(3): 654-58. doi:10.1016/j.bone.2010.10.164
2. Petrie KA, Lee WH, Bullock AN, Pointon JJ, Smith R, Russell RG, et al. Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS One. 2009; 4(3): e5005. doi:10.1371/journal.pone.0005005
3. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May; 38(5): 525-27. doi:10.1038/ng1783
4. Morales-Piga A, Kaplan FS. Osteochondral diseases and fibrodysplasia ossificans progressiva. Adv Exp Med Biol. 2010; 686: 335-48. doi:10.1007/978-90-481-9485-8_19
5. Kaplan FS, Glaser DL, Shore EM, Deirmengian GK, Gupta R, Delai P, et al. The phenotype of fibrodysplasia ossificans progressiva. Clinic Rev Bone Miner Metab. 2005; 3: 183. doi:10.1385/BMM:3:3-4:183
6. Glaser DL, Kaplan FS. Treatment considerations for the management of fibrodysplasia ossificans progressiva. Clin Rev Bone Miner Metab. 2005; 3: 243. doi:10.1385/BMM:3:3-4:243
7. Kussmaul WG, Esmail AN, Sagar Y, Ross J, Gregory S, Kaplan FS. Pulmonary and cardiac function in advanced fibrodysplasia ossificans progressiva. Clin Orthop Relat Res. 1998 Jan; (346): 104-9.
8. Kaplan 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 Mar; 30(3): 379-90. doi:10.1002/humu.20868
9. 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. 2009 Mar; 17(3): 311-18. doi:10.1038/ejhg.2008.178
10. Ratbi I, Borcciadi R, Regragui A, Ravazzolo R, Sefiani A. Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva. Clin Rheumatol. 2010 Jan; 29(1): 119-21. doi:10.1007/s10067-009-1283-z
11. Joziasse IC, Smith KA, Chocron S, van Dinther M, Guryev V, van de Smagt JJ, et al. ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. Eur J Hum Genet. 2011; 19(4): 389-93. doi:10.1038/ejhg.2010.224
12. Whyte MP, Wenkert D, Demertzis JL, DiCarlo EF, Westenberg E, Mumm S. Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1. J Bone Miner Res. 2012 Mar; 27(3): 729-37. doi:10.1002/jbmr.1473
13. Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, et al. Dominant-negative ALK2 allele associates with congenital heart defects. Circulation. 2009 Jun; 119(24): 3062-69. doi:10.1161/CIRCULATIONAHA.108.843714
14. Furuya H, Ikezoe K, Wang L, Ohyagi Y, Motomura K, Fujii N, 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. 2008 Feb; 146A(4): 459-63. doi:10.1002/ajmg.a.32151
15. Pacifici M, Shore EM. Common mutations in ALK2/ACVR1, a multi-faceted receptor, have roles in distinct pediatric musculoskeletal and neural orphan disorders. Cytokine Growth Factor Rev. 2016 Feb; 27: 93-104. doi:10.1016/j.cytogfr.2015.12.007
16. Pignolo RJ, Shore EM, Kaplan FS. Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects. Orphanet J Rare Dis. 2011; 6: 80. doi:10.1186/1750-1172-6-80
17. Connor JM, Evans DA. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br. 1982; 64(1): 76-83.
18. Fonseca JE, Branco JC, Reis J, Evangelista T, Tavares V, Gomes AR, et al. Fibrodysplasia ossificans progressiva: report of two cases. Clin Exp Rheumatol. 2000 Nov-Dec; 18(6): 749-52.
19. Schaffer AA, Kaplan FS, Tracy MR, O'Brien ML, Dormans JP, Shore EM, et al. Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway. Spine (Phila Pa 1976). 2005 Jun; 30(12): 1379-85.
20. Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, et al. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008 May; 121(5): e1295-300. doi:10.1542/peds.2007-1980
Send email to the article author

XML   Persian Abstract   Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Oladnabi M, Haddadi T, Kianmehr A, Mansour Samaei N, Aghaie M. Fibrodysplasia ossificans progressive: A case report. J Gorgan Univ Med Sci 2017; 19 (3) :111-115
URL: http://goums.ac.ir/journal/article-1-3146-en.html

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Volume 19, Issue 3 (10-2017) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
Persian site map - English site map - Created in 0.05 seconds with 36 queries by YEKTAWEB 4652