Research : Gamma-Glutamyl-Carboxylase
Mutations in the Gamma-Glutamyl-Carboxylase
Christof Geisen, Katja Sittinger, Gabi Spohn (Frankfurt)Andreas Fregin, Clemens Müller-Reible, Simone Rost (Würzburg)
The autosomal recessive inherited phenotype of deficiency of all vitamin K dependent coagulation factors (VKCFD) can be caused by mutations in the Gamma-Glutamyl-Carboxylase gene (VKCFD1) or mutations in the VKORC1 - gene (VKCFD2, see project 1). Patients with this rare phenotype - only 12 families described so far - suffer from increased risk of haemorrhage, especially intracerebal bleeding during the perinatal time. The deficiency can often be corrected by oral substitution of vitamin K. Recently we discovered the first compound heterozygous case with two mutations (A485P, IVS2-1) in the Gamma-Glutamyl-Carboxylase gene (Rost et al. 2004).