不明原因智力障碍共患癫痫患儿的临床特征及相关致病基因分析

doi:10.3969/j.issn.1006-6233.2020.12.023

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摘要 目的: 分析不明原因智力障碍共患癫痫(Epilepsy in patients with unexplained mental disorders,ID-E)患儿临床特征及相关致病基因。方法: 选取2016年1月1日至2019年6月31日我院收治的临床资料完整的智力障碍共患癫痫儿童患者72例为研究对象,根据患儿基因拷贝数(CNVs)变异检出率进行分组,观察阳性、阴性表达患儿临床特征,观察表达患儿临床治疗效果,根据患儿智力障碍情况分为轻度智力障碍、中度智力障碍、重度智力障碍组,对不同智力障碍患儿CNVs检出类型进行观察记录。结果: 72例患儿CNVs阳性情况进行分组,15例阳性患儿,占(20.83%);阴性患儿57例,占(79.17%)。对阳性、阴性CNVs情况患儿临床特征进行分析发现:其在智力障碍程度、癫痫发作特点上,差异具有统计学意义(P<0.05)。根据患儿智力障碍进行分组,4例中度智力障碍阳性CNVs患儿3例为微缺失微重复综合征;1例基因片段突变,其突变染色体涉及17、21与X号染色体;无致病性不确定患儿。11例重度智力障碍阳性CNVs患儿7例为微缺失微重复综合征;3例基因片段突变,涉及染色体同样为17、21与X号染色体;发现1例致病性不确定患儿,经Fisher's检验显示:微缺失微重复综合征、基因片段突变、致病性不确定比较,差异无统计学意义(P>0.05)。阳性与阴性患儿疗效程度显效、有效、无效比较,差异具有统计学意义(P<0.05);治疗总有效率阴性组患儿显著高于阳性组患儿,差异具有统计学意义(P<0.05)。结论: 不同CNVs表达患者其在智力受损程度、癫痫发作特点上存在显著差异;本研究通过基因拷贝数变异情况进行分析表明20.83%患儿存在可致病性拷贝数变异。

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关键词 ：不明原因智力障碍, 癫痫, 临床特征, 致病基因

Abstract：Objective: To analyze the clinical characteristics and related pathogenic genes of children with epilepsy (Epilepsy in patients with unexplained mental disorders,ID-E) and dysgnosia for unknown reason. Methods: From January 1,2016 to June 31,2019,72 children with epilepsy and dysgnosia for unknown reason admitted to our hospital were selected as subjects. According to the detection rate of gene copy number (CNVs) variation, the positive and negative expression of children's clinical characteristics were observed, and the clinical treatment effect was observed. According to the mental disorder degree, children were divided into mild mental disorder group, moderate mental disorder group, and severe mental disorder group. Different types of CNVs were observed and recorded. Results: 72 cases of children with CNVs were divided into two groups, 15 cases Positive (20.83%), 57 cases negative (79.17%). The clinical characteristics of children with positive and negative CNVs were analyzed. It was found that the difference was statistically significant in the degree of mental retardation and seizure characteristics (P<0.05). According to the children's mental retardation, among 4 cases of moderate mental retardation positive CNVs, 3 cases were confirmed microdeletion and microduplication syndrome, 1 case was confirmed gene fragment mutation, the mutation chromosome involving chromosome 17, 21 and X; there were no children with uncertain pathogenicity. In 11 cases of severe mental retardation positive CNVs, 7 cases were microdeletion and microduplication syndrome; 3 cases were gene fragment mutation, involving chromosomes 17, 21 and X; one case of pathogenicity uncertainty was found, and Fisher's test showed that there was no significant difference in microdeletion and microduplication syndrome, gene fragment mutation and pathogenicity uncertainty (P>0.05). The difference was statistically significant (P<0.05); the total effective rate in the negative group was significantly higher than that in the positive group (P<0.05). Conclusion: Different CNVs expression patients have significant differences in the degree of intellectual impairment, seizure characteristics; this study through gene copy number variation analysis showed that 20.83% of children have pathogenic copy number variation.

Key words： Dysgnosia for unknown reason Epilepsy Clinical characteristics Pathogenic genes

基金资助:云南省昆明市卫生健康委员会卫生科研课题项目,(编号:2019-06-01-031);云南省王艺专家工作站,(编号:2019IC050)

通讯作者: 张霞

引用本文:

孙莹, 段丽芬, 王惠萍, 王春霞, 王左华, 龚燕, 张霞. 不明原因智力障碍共患癫痫患儿的临床特征及相关致病基因分析[J]. 河北医学, 2020, 26(12): 2032-2035.
SUN Ying, DUAN Lifen, WANG Huiping, et al. Clinical Characteristics and Related Pathogenic Genes of Children with Epilepsy and Dysgnosia for Unknown Reason. HeBei Med, 2020, 26(12): 2032-2035.

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http://www.hbyxzzs.cn/CN/10.3969/j.issn.1006-6233.2020.12.023 或 http://www.hbyxzzs.cn/CN/Y2020/V26/I12/2032

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