外胚叶发生不全发病机制的研究进展  

Research progress on the pathogenesis of ectodermal dysplasia syndrome

作　　者：李思洁[1] 肖雪[2] 赵玮[1] 

机构地区：[1]中山大学光华口腔医学院.附属口腔医院儿童口腔科广东省口腔医学重点实验室,广州510055 [2]中山大学光华口腔医学院.附属口腔医院修复科广东省口腔医学重点实验室,广州510055

出　　处：《国际口腔医学杂志》2017年第2期244-248,共5页International Journal of Stomatology

基　　金：国家自然科学基金(81472526);广东省自然科学基金(2014A030313126);广州市科技计划(201609010015);中山大学光华口腔医学院本科生科研设计大赛项目 (2015B003)~~

摘　　要：外胚叶发生不全(ED)是一种遗传性疾病,主要表现为牙齿、毛发、指甲和汗腺等外胚叶组织发生不全,其发病的内因主要是单基因突变。目前已经发现逾200种不同类型的基因突变,来自不同的染色体,或同一染色体上编码不同蛋白质的基因。其临床表现多种多样,且不同基因突变个体的临床表现往往不同;即使是同一基因不同类型的突变,其临床表现都可能大相径庭。本文就ED的发病机制及基因治疗进展作一综述,以利于加深临床医生对该疾病的认识并为进一步基因治疗研究提供帮助。Ectodermal dysplasia（ED） syndrome is a group of inherited disorders that share primary defects in ectodermal tissue development. ED is characterized by abnormal development of hair, nails, sweat glands, and teeth. ED is caused by certain chromosomal mutations, and to date, more than 200 causative mutations have been reported. The genes that encode proteins with different functions are located in different chromosomes or positions. Each syndrome involves a different combination of symptoms and is unique because of its heterozygous mutation pattern. This paper describes and discusses the pathogenesis and therapeutic prospects of this hereditary disorder to improve the clinical knowledge of the molecular basis of ED and proceed with genetic treatments in ED patients.

关 键 词：外胚叶发生不全 遗传性疾病 发病机制 基因突变 

分 类 号：R596.1[医药卫生—内科学]