Angelman综合征家系的临床和遗传学特点  

Clinical and genetic characteristics of a family with Angelman syndrome

作　　者：程书欢 孙萌[1] 李蒙蒙 程亚颖[1] CHENG Shuhuan;SUN Meng;LI Mengmeng;CHENG Yaying(Department of Pediatrics,General Hospital,Hebei Province,Shijiazhuang 050051,China)

机构地区：[1]河北省人民医院儿科,河北石家庄050051

出　　处：《吉林大学学报（医学版）》2020年第6期1288-1292,I0009,共6页Journal of Jilin University：Medicine Edition

基　　金：河北省科技厅医学科学研究项目资助课题(20190296)。

摘　　要：目的:总结Angelman综合征(AS)家系的病例资料,分析其临床和遗传学特点,提高临床医生对AS的认识。方法:收集1个AS家系中两兄弟及其亲属的病史、临床表现、辅助检查和基因检测结果,并进行相关的文献复习。结果:患儿,男性,年龄4个月3天,表现为发育迟滞、运动障碍、喂养困难;患儿二哥,年龄5岁2个月,表现为严重语言障碍、运动障碍、智力低下、不自觉笑、多动、有异常行为、癫痫发作和特征性脑电图(EEG)等。二代基因测序,患儿及其二哥存在UBE3A基因c.766C>T杂合无义突变,导致氨基酸终止编码。Sanger测序,该突变来源于其母亲。结论:AS是一种罕见的神经发育障碍性疾病,早期临床表现不典型,需通过分子生物学技术确诊。Objective:To summarize the data of a family with Angelman Syndrome(AS)and analyze their clinical and genetic characteristics,and to improve the clinicans’understanding of AS.Methods:The history,clinical manifestation results of auxiliary examination and genetic detection of two brothers and their relatives in the family with AS were collected,and the relevant literatures were reviewed.Results:The patient was a boy,aged 4 monthes and 3 days who presented developmental delay,dyskinesia,feeding difficulties;his second elder brother aged 5 years and 2 months who displayed language disorder,dyskinesia,mental retardation,inappropriate laughter,hyperactive,abnormal behavior,seizures and characteristic electroencephalogram(EEG).The second generation gene sequencing results showed the patient and his second elder brother had a novel maternal nonsense mutation of the UBE3A gene(c.766 C>T).The results of Sanger sequencing showed the mutation derived from their mother.Conclusion:AS is a rare neurodevelopmental disorder.Its early clinical manifestations are atypical and need to be confirmed by molecular biological techniques.

关 键 词：ANGELMAN综合征 泛素蛋白连接酶E3 无义突变 多重连接探针扩增技术 基因测序 

分 类 号：R729[医药卫生—儿科]