| 何娟,戴园园.钠离子通道相关基因突变致儿童癫痫 17例的临床特征及致病基因谱[J].安徽医药,2021,25(6):1198-1203. |
| 钠离子通道相关基因突变致儿童癫痫 17例的临床特征及致病基因谱 |
| Clinical characteristics and pathogenic gene spectrum of 17 children with epilepsy caused by sodium channel related gene mutations |
| |
| DOI：10.3969/j.issn.1009-6469.2021.06.034 |
| 中文关键词: 癫痫 钠离子通道 基因突变 SCN1A基因 SCN1B基因 SCN2A基因 SCN8A基因 SCN9A基因 儿童 |
| 英文关键词: Epilepsy Sodium channel Gene mutation SCN1A gene SCN1B gene SCN2A gene SCN8A gene SCN9A gene Child |
| 基金项目: |
|
| 摘要点击次数: 2478 |
| 全文下载次数: 640 |
| 中文摘要: |
| 目的探讨钠离子通道相关基因突变致儿童癫痫的临床特征及致病基因谱。方法收集 2017年 6月至 2019年 10月徐州医科大学附属医院靶向捕获二代测序发现钠离子通道相关基因可疑致病性突变，并经 Sanger测序验证基因突变来源的儿童癫痫 17例，进行回顾性总结和分析。结果共检测到 5种不同类型突变，其中 SCN1A 8例( 47.06%)SCN2A 5例( 29.41%)， SCN1B 1例( 5.88%)SCN8A 1例( 5.88%)SCN9A 2例(11.77%)；涉及多种突变类型，其中错义突变 14例(8，2.36%)非编码区突变 1例( 5.88%)剪接位，点突变 1例( 5.88%)，，移码突变 1例( 5.88%)； 3种已报道的致病突变， 14种新发现的突变； 9例，携带遗传性突变， 8例新生突，变；涉及多种癫痫综合征，对药物的反应也不同。结论癫痫的发生与编码电压门控钠离子通道的基因突变密切相关，轻者表型如热性惊厥，预后较好，重者表型如 Dravet综合征等癫痫性脑病可导致病儿死亡。钠离子通道基因突变以 SCN1A基因突变多见，突变类型以错义突变为主。 |
| 英文摘要: |
| Objective To investigate the clinical characteristics and pathogenic gene spectrum of childhood epilepsy caused by mutations of sodium channel related genes.Methods Seventeen epileptic children with suspected pathogenic mutations of sodium channel related genes who diagnosed by targeted capture second-generation sequencing and verified the source of the gene mutation bySanger sequencing in the Pediatrics Department of Xuzhou Medical University Affiliated Hospital from June 2017 to October 2019were collected and retrospectively summarized and analyzed.Results A total of five different types of heterozygous mutations of sodium channel genes were detected, including 8 cases (47.06%) of SCN1A gene, 1 case (5.88%) of SCN1B gene, 5 cases (29.41%) ofSCN2A gene, 1 case (5.88%) of SCN8A gene and 2 cases (11.77%) of SCN9A gene. Multiple mutation types were involved, there were14 cases of missense mutation (82.36%), 1 case of non-coding region mutation (5.88%),1 case of splice site mutation (5.88%), and 1case of frameshift mutation (5.88%). Three of them were reported pathogenic mutations, 14 cases were newly discovered mutations, 9cases carried hereditary mutations and 8 cases were newborn mutations. It involved a variety of epileptic syndromes and had differentreactions to drugs.Conclusions The occurrence of epilepsy is closely related to the gene mutation encoding voltage-gated sodiumchannel. Mild phenotypes such as febrile convulsions have a good prognosis, while severe phenotypes such as Dravet syndrome and other epileptic encephalopathy can lead to death. SCN1A is the most common mutation gene of voltage-gated sodium channel, the main type of mutation is missense mutation. |
|
查看全文
查看/发表评论 下载PDF阅读器 |
| 关闭 |
