GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations.

ABSTRACT: Gamma-carboxylation, performed by gamma-glutamyl carboxylase (GGCX), is an enzymatic process essential for activating vitamin K-dependent proteins (VKDP) with important functions in various biological processes. Mutations in the encoding GGCX gene are associated with multiple phenotypes, amongst which vitamin K-dependent coagulation factor deficiency (VKCFD1) is best known. Other patients have skin, eye, heart or bone manifestations. As genotype-phenotype correlations were never described, literature was systematically reviewed in search of patients with at least one GGCX mutation with a phenotypic description, resulting in a case series of 47 patients. Though this number was too low for statistically valid correlations-a frequent problem in orphan diseases-we demonstrate the

SUBMITTER: De Vilder EY 

PROVIDER: S-EPMC5343777 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature