ArticleEuropean journal of human genetics : EJHG2009
Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 103 citations in OpenAlex.
- Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.Journal of applied genetics · 2026Review
- A bibliometric analysis of progress and trends in pediatric glioma research.Discover oncology · 2026Article
- Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.Orphanet journal of rare diseases · 2024Review
- Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva.Orthopaedic surgery · 2024Article
- BMP signaling in cancer stemness and differentiation.Cell regeneration (London, England) · 2023Review
- Review
- Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.World journal of pediatrics : WJP · 2023Article
- A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.Nature communications · 2023Article
- Recent progress in drug development for fibrodysplasia ossificans progressiva.Molecular and cellular biochemistry · 2022Review
- Review
- Review
- A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.Molecular genetics & genomic medicine · 2021Article
- Accumulated Knowledge of Activin Receptor-Like Kinase 2 (ALK2)/Activin A Receptor, Type 1 (ACVR1) as a Target for Human Disorders.Biomedicines · 2021Review
- Genomic Context and Mechanisms of theBiomedicines · 2021Review
- Genetic and Acquired Heterotopic Ossification: A Translational Tale of Mice and Men.Biomedicines · 2020Review
- Insight into Molecular Mechanism for Activin A-Induced Bone Morphogenetic Protein Signaling.International journal of molecular sciences · 2020Article
- Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.BMC medical genetics · 2020Article
- Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China.World journal of pediatrics : WJP · 2020Article
- ACVR1 Function in Health and Disease.Cells · 2019Review
- Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Fibrodysplasia ossificans progressiva (FOP, MIM 135100) is a rare genetic disorder characterized by congenital great toe malformations and progressive heterotopic ossification transforming skeletal muscles and connective tissues to bone following a well-defined anatomic pattern of progression. Recently, FOP has been associated with a specific mutation of ACVR1, the gene coding for a bone morphogenetic protein type I receptor. The identification of ACVR1 as the causative gene for FOP now allows the genetic screening of FOP patients to identify the frequency of the identified recurrent ACVR1 mutation and to investigate genetic variability that may be associated with this severely debilitating disease. We report the screening for mutations in the ACVR1 gene carried out in a cohort of 17 Italian patients. Fifteen of these displayed the previously described c.617G>A mutation, leading to the R206H substitution in the GS domain of the ACVR1 receptor. In two patients, we found a novel mutation c.774G>C, leading to the R258S substitution in the kinase domain of the ACVR1 receptor. In the three-dimensional model of protein structure, R258 maps in close proximity to the GS domain, a key regulator of ACVR1 activity, where R206 is located. The GS domain is known to bind the regulatory protein FKBP12 and to undergo multiple phosphorylation events that trigger a signaling cascade inside the cell. The novel amino-acid substitution is predicted to influence either the conformation/stability of the GS region or the binding affinity with FKBP12, resulting in a less stringent inhibitory control on the ACVR1 kinase activity.
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