Angelman综合征发病机制与基因型-表型的研究进展  

Progress in the pathogenesis and genotype-phenotype of Angelman syndrome

作　　者：阮红梅 蒋莉[1] Ruan Hongmei;Jiang Li(Department of Neurology,Children′s Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,National Clinical Research Center for Child Health and Disorders(Chongqing),China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Pediatrics,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院神经内科,儿童发育疾病研究教育部重点实验室,国家儿童健康与疾病临床医学研究中心(重庆),儿童发育重大疾病国家国际科技合作基地,儿科学重庆市重点实验室,重庆400014

出　　处：《中华实用儿科临床杂志》2021年第22期1750-1753,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：Angelman综合征(AS)是以严重发育迟缓、智力低下、愉快表情、语言障碍、共济失调、癫痫发作为特征的神经发育障碍性疾病。母源染色体15q11-13上的UBE3A等位基因功能丧失是AS发生的主要原因,但目前对AS的发病机制、基因型-表型的相关性还未明确。现对近年来AS相关研究进展进行综述。Angelman syndrome(AS)is a neurodevelopmental disorder characterized by severe developmental delay,intellectual disability,exuberant behavior with happy demeanor,speech impairment,and epileptic seizures.The loss of UBE3A allele on maternal chromosome 15q11-13 is the main cause of AS.However,the pathogenesis and genotype-phenotype of AS is not yet clear.This study aims to review the research progress of AS.

关 键 词：天使综合征 UBE3A基因 发病机制 基因型-表型 

分 类 号：R748[医药卫生—神经病学与精神病学]