16p11.2微缺失相关儿童癫痫的临床表型与遗传学特征分析

doi:10.7499/j.issn.1008-8830.2111110

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Abstract Objective To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children. Methods The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed. Results The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children. Conclusions 16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.

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	LAI Chong-Yuan
	CHEN Rui-Hua
	ZHONG Chun-Lan
	JI Ming-Ming
	LI Bing-Fei

Key words： Epilepsy 16p11.2 microdeletion Whole exon sequencing technology Child

Received: 19 November 2021

Cite this article:

LAI Chong-Yuan,CHEN Rui-Hua,ZHONG Chun-Lan et al. Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children[J]. CJCP, 2022, 24(5): 585-590.

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http://www.zgddek.com/EN/10.7499/j.issn.1008-8830.2111110 OR http://www.zgddek.com/EN/Y2022/V24/I5/585

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