Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

Petrie, K. A., Lee, W. H., Bullock, A. N., Pointon, J. J., Smith, R., Russell, R. G. G., Brown, M. A., Wordsworth, B. P., & Triffitt, J. T. (2009) Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients. PLoS ONE, 4(3).

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Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed by the presence of shortened great toes and there is severe advancement of disability with age. FOP has been shown to result from a point mutation (c.617G>A) in the ACVR1 gene in almost all patients reported. Very recently two other mutations have been described in three FOP patients. We present here evidence for two further unique mutations (c.605G>T and c.983G>A) in this gene in two FOP patients with some atypical digit abnormalities and other clinical features. The observation of disparate missense mutations mapped to the GS and kinase domains of the protein supports the disease model of mild kinase activation and provides a potential rationale for phenotypic variation. © 2009 Petrie et al.

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ID Code: 87619
Item Type: Journal Article
Refereed: Yes
Keywords: alanine, glycine, membrane protein, protein ACVR1, threonine, unclassified drug, activin receptor 1, ACVR1 protein, human, protein kinase, adolescent, adult, anamnesis, article, bone swelling, case report, controlled study, disease exacerbation, disease severity, female, gene activation, genetic analysis, genetic variability, hallux, human, lumbar spine, mild cognitive impairment, missense mutation, nucleic acid base substitution, ossification, ossifying myositis, point mutation, protein domain, sequence homology, enzyme activation, genetics, middle aged, phenotype, Activin Receptors, Type I, Humans, Mutation, Missense, Myositis Ossificans, Protein Kinases
DOI: 10.1371/journal.pone.0005005
ISSN: 19326203 (ISSN)
Divisions: Current > Schools > School of Biomedical Sciences
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: The authors
Deposited On: 21 Sep 2015 06:48
Last Modified: 25 Nov 2016 01:01

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