Figure 2. The skin phenotype is caused by the biallelic
deficiency to γ-carboxylate GRP
(a-c) γ-Carboxylation dose-response curves of GRP and MGP measured by
ELISA. The y-axis represents normalized γ-carboxylation (%) to wt. The
x-axis represents K1 concentrations [0.1-100 µM].
Error bars depict SD of triplicate measurements of n = 3
experiments. In each figure dose-response curve for GGCX wt is
depicted in black. (a) γ-Carboxylation values of GRP and MGP with
respect to pathogenic GGCX variant reported in patients having a
PXE-like phenotype. These variants were found to be compound
heterozygous, where the other allele harbors a nonsense or
loss-of-function variant. Compound heterozygous pathogenic variants are
represented by the same color with each allele variant represented in
solid and dotted line. (b) γ-Carboxylation dose-response curves of GRP
and MGP with respect to variants reported to be compound heterozygous in
a patient with a mild skin phenotype. (c) γ-Carboxylation dose-response
curves of GRP and MGP with respect to variants that did not respond well
to K1 administration. Patients harboring these
pathogenic variant are expected to develop a skin phenotype later in
life.