Most notably, the studies are based on transient transfection of wild - type and
mutant gene constructs into cultured cells or into zebrafish embryos and are unlikely to reproduce the specific mutant gene dose that is present in heterozygous mutant cells in FOP patients.
To examine the functional effects of the ACVR1 c. 617G → A; R206H mutation that occurs in classic FOP patients, we compared the activity of wild - type (c. 617G; R206) and
mutant (c. 617A; R206H) ACVR1 expression
constructs on expression of the BMP pathway transcriptional target
gene inhibitors of differentiation 1 (ID1)(29, 30).