Partial research progress of GGCX pathogenic variation associated phenotypes

VernacularTitle:GGCX基因致病性变异相关表型的部分研究进展
Author: Guomin SHEN ¹ ; Hongli LIU ; Yan SHEN ; Shoumin XI
Author Information

1. 河南科技大学基础医学院，洛阳　471023
Keywords: γ-glutamyl carboxylase; Vitamin K-dependent glutamyl carboxylase; Vitamin K-dependent coagulation factor deficiency 1; Pseudoxanthoma elasticum-like synd
From: Chinese Journal of Medical Genetics 2022;39(6):646-650
CountryChina
Language:Chinese
Abstract: γ-glutamyl carboxylase (GGCX), also known as vitamin K-dependent glutamyl carboxylase, catalyzes the posttranslational modification of specific glutamate residues in vitamin K-dependent proteins (VKDPs), and participates multiple biological functions including blood coagulation, bone metabolism, vascular calcification, and cell proliferation. It has been reported originally that GGCX pathogenic variation causes blood coagulation deficiency, which is called as vitamin K-dependent coagulation factor deficiency 1 (VKCFD1). Recently, it has been found that GGCX gene variation results in multiple clinical phenotypes, including dermatological, ophthalmological, skeletal or cardiac abnormalities. Among them, dermatological phenotype is the most common, which is known as pseudoxanthoma elasticum-like syndrome. This paper has reviewed the GGCX pathogenic variation associated phenotypes, in order to increase the recognition of GGCX-related genetic diseases and to help its diagnosis and treatment.