Literature DB >> 19795179

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ilham Ratbi1, Renata Bocciardi, Asmaa Regragui, Roberto Ravazzolo, Abdelaziz Sefiani.   

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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Year:  2009        PMID： 19795179     DOI： 10.1007/s10067-009-1283-z

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN： 0770-3198            Impact factor:   2.980


  11 in total

1.  Fibrodysplasia ossificans progressiva -- lessons from rare maladies.

Authors:  J M Connor
Journal:  N Engl J Med       Date:  1996-08-22       Impact factor: 91.245

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

Authors:  Eileen M Shore; Meiqi Xu; George J Feldman; David A Fenstermacher; Tae-Joon Cho; In Ho Choi; J Michael Connor; Patricia Delai; David L Glaser; Martine LeMerrer; Rolf Morhart; John G Rogers; Roger Smith; James T Triffitt; J Andoni Urtizberea; Michael Zasloff; Matthew A Brown; Frederick S Kaplan
Journal:  Nat Genet       Date:  2006-04-23       Impact factor: 38.330

3.  Fibrodysplasia (myositis) ossificans progressiva. Clinical lessons from a rare disease.

Authors:  R Smith
Journal:  Clin Orthop Relat Res       Date:  1998-01       Impact factor: 4.176

4.  Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva.

Authors:  C E Levy; A T Lash; H B Janoff; F S Kaplan
Journal:  Am J Audiol       Date:  1999-06       Impact factor: 1.493

5.  The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.

Authors:  Masahiro Nakajima; Nobuhiko Haga; Kazuharu Takikawa; Noriyo Manabe; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2007-03-10       Impact factor: 3.172

Review 6.  Bone morphogenetic proteins.

Authors:  Di Chen; Ming Zhao; Gregory R Mundy
Journal:  Growth Factors       Date:  2004-12       Impact factor: 2.511

Review 7.  Heterotopic ossification.

Authors:  Frederick S Kaplan; David L Glaser; Nader Hebela; Eileen M Shore
Journal:  J Am Acad Orthop Surg       Date:  2004 Mar-Apr       Impact factor: 3.020

8.  A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).

Authors:  Hirokazu Furuya; Koji Ikezoe; Lixiang Wang; Yasumasa Ohyagi; Kyoko Motomura; Naoki Fujii; Jun-Ichi Kira; Yasuyuki Fukumaki
Journal:  Am J Med Genet A       Date:  2008-02-15       Impact factor: 2.802

9.  Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

Authors:  Frederick S Kaplan; Meiqi Xu; Petra Seemann; J Michael Connor; David L Glaser; Liam Carroll; Patricia Delai; Elisabeth Fastnacht-Urban; Stephen J Forman; Gabriele Gillessen-Kaesbach; Julie Hoover-Fong; Bernhard Köster; Richard M Pauli; William Reardon; Syed-Adeel Zaidi; Michael Zasloff; Rolf Morhart; Stefan Mundlos; Jay Groppe; Eileen M Shore
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

10.  Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Authors:  Renata Bocciardi; Domenico Bordo; Marco Di Duca; Maja Di Rocco; Roberto Ravazzolo
Journal:  Eur J Hum Genet       Date:  2008-10-01       Impact factor: 4.246
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  12 in total

1.  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.

Authors:  Celia L Gregson; Peter Hollingworth; Martin Williams; Kirsten A Petrie; Alex N Bullock; Matthew A Brown; Jon H Tobias; James T Triffitt
Journal:  Bone       Date:  2010-10-29       Impact factor: 4.398

Review 2.  Fibrodysplasia ossificans progressiva: Basic understanding and experimental models.

Authors:  Zijuan Qi; Jing Luan; Xiaoyan Zhou; Yazhou Cui; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2017-11

Review 3.  Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.

Authors:  Irina Hüning; Gabriele Gillessen-Kaesbach
Journal:  Mol Syndromol       Date:  2014-08-07

Review 4.  TGF-β/BMP signaling and other molecular events: regulation of osteoblastogenesis and bone formation.

Authors:  Md Shaifur Rahman; Naznin Akhtar; Hossen Mohammad Jamil; Rajat Suvra Banik; Sikder M Asaduzzaman
Journal:  Bone Res       Date:  2015-04-14       Impact factor: 13.567

Review 5.  The biological function of type I receptors of bone morphogenetic protein in bone.

Authors:  Shuxian Lin; Kathy K H Svoboda; Jian Q Feng; Xinquan Jiang
Journal:  Bone Res       Date:  2016-04-05       Impact factor: 13.567

6.  Phenotypic differences of patients with fibrodysplasia ossificans progressive due to p.Arg258Ser variants of ACVR1.

Authors:  Yasuo Nakahara; Ryuyo Suzuki; Takenobu Katagiri; Junya Toguchida; Nobuhiko Haga
Journal:  Hum Genome Var       Date:  2015-12-10

Review 7.  ACVR1 Function in Health and Disease.

Authors:  José Antonio Valer; Cristina Sánchez-de-Diego; Carolina Pimenta-Lopes; Jose Luis Rosa; Francesc Ventura
Journal:  Cells       Date:  2019-10-31       Impact factor: 6.600

8.  From mysteries to medicines: drug development for fibrodysplasia ossificans progressive.

Authors:  Frederick S Kaplan; Robert J Pignolo; Eileen M Shore
Journal:  Expert Opin Orphan Drugs       Date:  2013-08       Impact factor: 0.694

Review 9.  Fibrodysplasia ossificans progressiva: mechanisms and models of skeletal metamorphosis.

Authors:  Frederick S Kaplan; Salin A Chakkalakal; Eileen M Shore
Journal:  Dis Model Mech       Date:  2012-11       Impact factor: 5.758

Review 10.  The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.

Authors:  Serena Cappato; Francesca Giacopelli; Roberto Ravazzolo; Renata Bocciardi
Journal:  Int J Mol Sci       Date:  2018-03-26       Impact factor: 5.923
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