GGCX基因致病性变异相关表型的部分研究进展  

Partial research progress of GGCX pathogenic variation associated phenotypes

作　　者：沈国民[1,2] 刘红丽 沈滟[1,2] 席守民 Shen Guomin;Liu Hongli;Shen Yan;Xi Shoumin(School of Basic Medical Science,Henan University of Science and Technology,Luoyang,Henan 471023,China;Henan International Joint Laboratory of Thrombosis and Hemostasis,Luoyang,Henan 471023,China)

机构地区：[1]河南科技大学基础医学院,洛阳471023 [2]河南省血栓与止血国际联合实验室,洛阳471023

出　　处：《中华医学遗传学杂志》2022年第6期646-650,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81770140,82170133);河南省科技攻关项目(212102310629,212102310877)。

摘　　要：γ-谷氨酰羧化酶(γ-glutamyl carboxylase,GGCX)又称维生素K依赖性谷氨酰羧化酶,通过对维生素K依赖性蛋白特定的谷氨酸残基进行γ-羧基化修饰,参与凝血、骨代谢、血管钙化和细胞增殖等多种生物学过程。早期研究发现GGCX基因致病性变异导致凝血缺陷,该表型被称为维生素K依赖性凝血因子缺乏症1。近年来发现GGCX突变还可以导致其它多种临床表型,包括皮肤、眼科、骨和心脏的异常。其中皮肤异常表型最为常见,该表型被称为类弹性假黄瘤样综合征。本文就GGCX基因致病性变异相关表型进行综述,以期提高对相关遗传病的认识,从而有助于诊断和治疗。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.

关 键 词：γ-谷氨酰羧化酶 维生素K依赖性谷氨酰羧化酶 维生素K依赖性凝血因子缺乏症1 类弹性假黄瘤样综合征 维生素K 

分 类 号：R596[医药卫生—内科学]