Axenfeld-Rieger综合征临床特征及遗传变异相关研究  

Clinical features and genetic variations of Axenfeld-Rieger syndrome

作　　者：王琦(综述)[1] 邵正波[1] 原慧萍(审校)[1] Wang Qi;Shao Zhengbo;Yuan Huiping(Department of Ophthalmology,the Second Affiliated Hospital of Harbin Medical University,The Key Laboratory of Myocardial Ischemia,Harbin Medical University,Ministry Education,Harbin 150086,China)

机构地区：[1]哈尔滨医科大学附属第二医院眼科、哈尔滨医科大学心肌缺血教育部重点实验室,哈尔滨150086

出　　处：《中华实验眼科杂志》2023年第9期920-924,共5页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目(82070956);黑龙江省应用技术研究与开发计划项目(GA20C008);哈尔滨医科大学研究生科研和实践创新项目(YJSSJCX2019-45HYD)。

摘　　要：Axenfeld-Rieger综合征(ARS)是一种罕见的、涉及眼前节发育异常的常染色体显性遗传病, 可伴有颅面部发育异常、牙齿缺失或小牙、脐部皮肤突出等全身其他器官发育缺陷。ARS在眼部主要表现为角膜后胚胎环、虹膜发育异常和前粘连、瞳孔偏位或多瞳孔, 以及上述的不同组合, 青光眼发生率较高。ARS具有表型异质性, 即使在同一家系中, 具有相同基因型的人表型也不尽相同。目前报道的ARS相关遗传变异主要涉及编码转录因子的PITX2、FOXC1基因, 基因内点突变和基因删除为常见变异类型, 具体致病机制尚不明确, 可能与基因突变导致的基因表达量异常和蛋白质功能改变有关。个别ARS患者携带COL4A1、PRDM5、CYP1B1基因突变, 但其致病性仍有待进一步研究证实。本文将对ARS临床特征、相关基因以及和临床表型的关系、基因功能研究现状等进行综述。Axenfeld-Rieger syndrome is a rare autosomal dominant hereditary disease characterized by anterior segment dysgenesis,which may be accompanied by various systemic defects,including craniofacial dysmorphism,hypodontia,microdontia,and redundant periumbilical skin.Its typical ocular manifestations include posterior embryotoxon,iris hypoplasia,peripheral anterior synechiae,corectopia and polycoria with a high prevalence of glaucoma.Patients can exhibit any combination of these features.However,family members with the same genotype may present different phenotypes due to phenotypic heterogeneity.Emerging evidence suggests that PITX2 and FOXC1 genes encoding transcription factors are primarily associated with genetic variants in ARS.Intragenic mutations and gene deletions are common types of genetic variations suspected to trigger changes in gene dosages and protein function.However,the underlying molecular mechanism remains unclear.Some patients with ARS carry mutations in the COL4A1,PRDM5,and CYP1B1 genes,but the pathogenicity of these variations has yet to be confirmed by further studies.This article provided an overview of the typical clinical features,potential correlations between phenotype and genotype,as well as gene function.

关 键 词：AXENFELD-RIEGER综合征 临床特征 基因 遗传变异 

分 类 号：R596[医药卫生—内科学]