Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients
| Autor: | B. Paul Wordsworth, James T. Triffitt, Matthew A. Brown, J J Pointon, R. Graham G. Russell, Alex N. Bullock, Wen Hwa Lee, Roger Smith, K A Petrie |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Pathology
medicine.medical_specialty Adolescent Mutation Missense lcsh:Medicine ACVR1 Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine medicine Missense mutation Humans Point Mutation genetics lcsh:Science Genetics and Genomics/Genetics of Disease 030304 developmental biology Genetics and Genomics/Medical Genetics 0303 health sciences Mutation Multidisciplinary Ossification Point mutation lcsh:R Myositis ossificans Middle Aged medicine.disease Phenotype Enzyme Activation Myositis Ossificans 030220 oncology & carcinogenesis Fibrodysplasia ossificans progressiva lcsh:Q Female Rheumatology/Connective Tissue Disease medicine.symptom Protein Kinases Activin Receptors Type I Research Article |
| Zdroj: | PLoS ONE PLoS ONE, Vol 4, Iss 3, p e5005 (2009) |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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