摘要
目的探讨TBC1 D24基因突变的婴儿局灶性肌阵挛癫痫患儿的临床特征和基因突变。方法对复旦大学附属儿科医院诊治的1例TBC1D24基因突变的婴儿局灶性肌阵挛癫痫患儿的临床资料进行分析。以“TBC1D24”“癫痫”及“TBC1D24”“Epilepsy”为关键词，对中国期刊全文数据库（CNKI）、万方数据知识服务平台及美国国家生物技术中心（NCBI）、生物医学文献数据库（ Pubmed ）建库至2016年4月收录的论文进行检索。总结TBC1 D24基因突变患儿临床表现及基因突变特点。结果患儿男，入院时2岁3月龄。因“反复抽搐2年”于2015年9月入院，发育较同龄儿迟缓。患儿于3月龄出现局灶性肌阵挛发作，不伴意识障碍，多在入睡后数分钟缓解，持续几小时至十几小时不等，每3-7天发作1次。6月龄出现局灶性肌阵挛继发全面性肌阵挛发作，伴有意识水平下降但未完全丧失，入睡后约半小时左右发作可缓解，每3-4个月发作1次。两种抽搐方式中左右两侧均不固定。入院体格检查发现患儿行走不稳，肌张力偏低，指鼻欠稳、欠快。视频脑电图显示发作期未见明显异常放电。基因突变分析发现患儿TBC1D24基因存在复合杂合错义突变：c．730G〉A，p．A244T和c．1571G〉C，p．R524P，其中前者遗传自父亲，后者遗传自母亲，均为新发突变。应用Polyphen－2和MutationTaster预测显示前者氨基酸序列高度保守和后者氨基酸序列相对保守，均显示潜在的致病性。文献检索共收集9篇文献（均为英文）包括本例患儿共24例患者，共发现10个TBC1D24突变，其中1个为移码突变，1个为终止突变，剩余8个均为错义突变；11例为复合杂合突变，13例为纯合突变。结论不伴意识障碍的婴儿期长程的局灶性肌阵挛发作，病因未明时，建议进行TBC1D24基因检查。
Objective To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations.Method The clinical data of a patient with novel TBC 1D24 compound heterozygous mutations from Children′s Hospital of Fudan University were collected , the related literature was searched from China National Knowledge Infrastructure , Wanfang Data Knowledge Service Platform , National Center from Biotechnology Information and Pubmed （ up to April 2016 ） by using search terms“TBC1D24” “epilepsy”.The clinical features, electroencephalogram （EEG） and prognosis of the patients with TBC1D24 gene mutations were studied.Result The patient was a boy with non-consanguineous healthy parents.He had an acute episode of focal continuous myoclonus lasting a few hours with consciousness preserved at the age of 3 months.Myoclonic jerks alternatively affected the eyelids , either the right or left limbs, sometimes triggered by fever or fatigue .The frequency was once 3-7 days.At the age of 6 months he was found to have myoclonus seizures with onset from a unilateral eyes lid and limb lasting 10 more minutes and subsequently affected four extremities or the trunk .They occurred once 3 -4 months with perserved consciousness and lasted from several hours to up to ten more hours .They mostly disappeared during＆amp;nbsp;sleep.He had ataxia and mild mental retarding .Paroxysmal anomalies were not found on ictal traces .A novel compound heterozygous mutation of TBC 1D24 gene, c.730G 〉A, p.A244T and c.1571G 〉C, p.R524P were found in the patient.Further study showed that c.730G〉A mutation was inherited from his father and c.1571G〉C from his mother.These two were not reported in public databases and predicted deleterious by Mutation Taster and polyphen-2.Literature relevant to TBC1D24 published all around the world was reviewed, no Chinese cases with TBC1D24 gene mutations had been reported .The total of 24 cases including the present case with TBC1D24 gene mutation were reported.Among them, 11 case
作者
李文辉
周水珍
张林妹
王新华
张赟健
吴冰冰
王慧君
杨皓玮
Li Wenhui Zhou Shuizhen Zhang Linmei Wang Xinhua Zhang Yunjian Wu Bingbing Wang Huijun Yang Haowei(Department of Neurolgy, Children＇s Hospital of Fudan University, Shanghai 201102, China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2017年第1期50-53,共4页
Chinese Journal of Pediatrics
