Homozygosity Mapping of a Second Gene Locus for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors (FMFD) to Chromosome 16

Familial multiple coagulation factor deficiency (FMFD) of factors II, VII, IX, X, protein C and protein S is a very rare bleeding disorder with autosomal recessive inheritance [1]. The disease may result either from a defective resorption/transport of vitamin K to the liver, or from a mutation in one of the genes encoding gamma-carboxylase (GGCX) or other proteins of the Vitamin K 2,3-epoxide reductase (VKOR, Fig. 1) [2, 3].