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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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

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

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