Angelman综合征发病机制、分型及治疗进展.pdf

· 668 · 临床儿科杂志 第 33 卷第 7 期 2015 年 7 月 J Clin Pediatr Vol.33 No.7 Jul. 2015 doi:10.3969 j.issn.1000-3606.2015.07.016 ·文献综述· Angelman 综合征发病机制、分型及治疗进展 刘依竞 肖　农综述 重庆医科大学附属儿童医院康复科　儿童发育疾病研究部共建教育部重点实验室　儿科学重庆市重点 实验室　重庆市儿童发育重大疾病诊治与预防国际科技合作基地( 重庆 400014) 摘要：　Angelman综合征(AS)是以严重发育迟缓、智力低下、语言障碍、共济失调、癫痫发作、愉快表情为特征 的神经遗传性疾病。成年AS患者生活质量低下，对家庭及社会造成极大负担。目前已知AS有4种基因型，不同基因型 患者的临床表现存在差异。文章综述近年对AS发病机制、基因缺陷分型、治疗的研究进展。 关键词：　天使综合征；　泛素蛋白酶基因；　治疗 Progress in pathogenesis, classification, and treatment of Angelman syndrome　Reviewer: LIU Yijing, XIAO Nong (Department of Children Rehabilitation, Children’s Hospital of Chongqing Medical University, Key Laboratory of Developmental Diseases in Childhood Ministry of Education, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China) Abstract:　Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, speech impairment, gait ataxia, epileptic seizures, and exuberant behavior with happy demeanor. The ma- jority of patients have poor quality of life and cause great burden to family and society. It is known that AS is caused by four gen - otypes which have different clinical manifestations. In this article, the recent advances in pathogenesis, the relationship between genotype and symptoms, and the treatment strategies of AS will be reviewed. Key words:　Angelman syndrome;　ubiquitin protein ligase E3A;　therapy [6,7] Angelman综合征(Angelman syndrome ，AS)又称天 为脑瘫、线粒体疾病、Lennox-Gasta