GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause
skin laxity in VKCFD1 patients
Abstract
γ-Glutamyl carboxylase (GGCX) catalyses γ-carboxylation of 15 different
vitamin K dependent (VKD) proteins. Pathogenic variants in GGCX cause a
rare hereditary bleeding disorder called Vitamin K dependent coagulation
factor deficiency type 1 (VKCFD1). In addition to bleedings, some VKCFD1
patients develop skin laxity and skeletal dysmorphologies. However, the
pathophysiological mechanisms underlying these non-haemorrhagic
phenotypes remain elusive. Therefore, we analyzed the effect of 22 GGCX
pathogenic variants on γ-carboxylation of six non-haemostatic VKD
proteins (UCMA/GRP, MGP, BGLAP, GAS6, PRGP1, TMG4) in a GGCX-/- HEK293T
cell line by a functional ELISA. We observed that biallelic deficiency
to γ-carboxylate Gla-rich protein lead to the development of skin
laxity. Markedly reduced level of γ-carboxylated MGP is crucial but not
exclusive for causing facial dysmorphologies. Moreover, we identified
the vitamin K hydroquinone binding site in GGCX in an in silico model by
docking studies, which was further validated by functional assays.
Variants affecting this site result into loss-of-function or severely
diminished ability to γ-carboxylate VKD proteins and hence are involved
in the most severe phenotypes. This genotype-phenotype analysis will
help to develop new treatment options for VKCFD1 patients, where
individualized therapy with γ-carboxylated VKD proteins may represent a
promising strategy.