An Activin Receptor IA/Activin-Like Kinase-2 (R206H) Mutation

Copyright © 2013 Rafael Herrera-Esparza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disease that is characterised by congenital malforma-tions of the great toes and progressive heterotopic ossification (HO) in specific anatomical areas.This disease is caused by amutation in activin receptor IA/activin-like kinase-2 (ACVR1/ALK2). A Mexican family with one member affected by FOP was studied.The patient is a 19-year-old female who first presented with symptoms of FOP at 8 years old; she developed spontaneous and painful swelling of the right scapular area accompanied by functional limitation of movement. Mutation analysis was performed in which genomic DNA as PCR amplified using primers flanking exons 4 and 6, and PCR products were digested with Cac8I and HphI restriction enzymes.Themost informative results were obtainedwith the exon 4 flanking primers and theCac8I restriction enzyme, which generated a 253 bp product that carries the ACVR1 617G>Amutation, which causes an amino acid substitution of histidine for arginine at position 206 of the glycine-serine (GS) domain, and its mutation results in the dysregulation of bone morphogenetic protein (BMP) signalling that causes FOP. 1