罕见基因突变致新生儿癫痫的临床与基因分析五例  

Clinical and genetic analysis of 5 cases of neonatal epilepsy caused by rare gene mutations

作　　者：吴灿 史乐洋 叶超群 代青梅 邓璐瑶 王燕[1] 黄会芝[1] WU Can;SHI Le-yang;YE Chao-qun(Children's Medical Center of Anhui Medical University,Hefei 230051,China;不详)

机构地区：[1]安徽医科大学儿童医学中心,合肥230051 [2]六安市金安区妇幼保健院,安徽六安237000

出　　处：《医师在线》2023年第10期8-14,共7页Journal of Doctors Online

摘　　要：目的回顾性研究5例罕见基因突变新生儿癫痫的临床表现与基因表型,并复习相关文献。方法收集就诊于安徽省儿童医院新生儿科的5例罕见基因突变所致新生儿癫痫患儿的临床资料,均采用全外显子组测序检测法检测患儿EDTA抗凝外周血,所获得的基因数据用以研究与新生儿癫痫相关的临床表型和基因型。结果全外显子组测序发现5种相关癫痫患儿的基因突变类型,分别是ALG13、SCN4A、CACNA1E、VARS和ALDH7A1,同时鉴定出5个新突变位点:c.3n62681(exo)C>T、c.215C>T、c.4091(exon29)C>A、c.3203(exon27)C>T和c.328(exon4)C>T。结论基因突变导致的癫痫发作临床表型复杂,且基因突变类型及位点分布可能与临床表型相关联,需要个体化治疗。Objective The clinical manifestations and gene phenotypes of 5 cases of neonatal epilepsy with rare gene mutations were retrospectively studied,and the related literatures were reviewed.Methods The clinical data of 5 cases of neonatal epilepsy caused by rare gene mutations in the Department of neonatology,Anhui Children's Hospital were collected.The whole exome sequencing method was used to detect the EDTA anticoagulant peripheral blood of the children.The obtained genetic data were used to study the relationship between the clinical phenotype and genotype of neonatal epilepsy.Results Whole exome sequencing revealed 5 types of gene mutations in children with epilepsy,which were ALG13、SCN4A、CACNA1E、VARS and ALDH7A1.At the same time,5 new mutations sites were identified:c.3n62681(exo)C>T、c.215C>T、c.4091(exon29)C>A、c.3203(exon27)C>T and c.328(exon4)C>T.Conclusion The clinical phenotype of epileptic seizures caused by gene mutations is complex,and the type of gene mutations and site distribution may be related to the clinical phenotype,which requires individualized treatment.

关 键 词：基因突变 新生儿 癫痫 

分 类 号：R74[医药卫生—神经病学与精神病学]