The first PFGC mutation in either PDGFB or PDGFRB to be described was the L658P (c.1973T>C) missense mutation in the protein kinase catalytic domain of PDGF-Rβ, which segregated with the disease in a large family with 13 PFBC patients [14]. This evidence concerns the gene PDGFRB and bilateral striopallidodentate calcinosis.