Novel phenotype and c-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulationfactors

Hereditary combined deficiency of vitamin K-dependent clotting factors (VKCFD) is a rare autosomal recessive bleeding disorder [1]associated with defects in either the c-glutamyl carboxylase (GGCX, VKCFD type I) or the vitamin K epoxide reductase (VKORC1,VKCFD type II), which regenerates the reduced form of the cofactor vitamin K. Several mutations in GGCX have been reported whereas to date, only one has been identified in VKORC1. A case report study.