A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene

ConclusionsWe identified a novel,de novo variant in the fifthACVR1 coding exon (NM_001111067.4:c.772A>T; NP_001104537.1:p.(R258W)). This substitution, never reported in association with FOP, affects a conserved arginine residue in the kinase domain of the protein.In silico analysis predicted the pathogenicity of this substitution, demonstrated byin vitro assays showing that the p.R258W ACVR1 mutated receptor acquires the ability to transduce the aberrant Activin A-mediated signaling, as observed for the gene variants associated with FOP.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research