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

ABSTRACT:

Background

Fibrodysplasia Ossificans Progressiva (FOP) is a rare autosomal dominant disease characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues leading to cumulative disability. The genetic cause of FOP are mutations in the ACVR1 gene that encodes a type I receptor of Bone Morphogenetic Proteins. The most recurrent mutation in FOP patients is R206H affecting the Glycine-Serine rich domain and causing the hyper-activation of the receptor and the responsivity to the non-canonical ligand, Activin A. In the present study, we described a 3-years old child with early and highly suggestive clinical features of FOP who was found negative for the recurrent p.R206H substitution.

Methods

Molecular screening of the whole AC

SUBMITTER: Cappato S 

PROVIDER: S-EPMC8580088 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature