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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.

Original publication

DOI

10.1371/journal.pone.0005005

Type

Journal article

Journal

PloS one

Publication Date

01/2009

Volume

4

Addresses

Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Department of Orthopaedic Surgery, University of Oxford, Oxford, United Kingdom.

Keywords

Humans, Myositis Ossificans, Protein Kinases, Activin Receptors, Type I, Enzyme Activation, Phenotype, Mutation, Missense, Point Mutation, Adolescent, Middle Aged, Female