新发TSC2基因位点突变致儿童结节性硬化症并色素脱斑相关癫痫
Novel TSC2 gene locus mutation causing nodular sclerosis and depigmentation associated epilepsy in children
王雪红 1庄生琴 1马溪遥 2张博 2李锋同1
作者信息
- 1. 延安市人民医院,陕西 延安 716000
- 2. 延安大学医学院,陕西 延安 716000
- 折叠
摘要
结节性硬化症(tuberous sclerosis complex,TSC)是一种常染色体显性遗传的神经皮肤综合征,以累及多个器官系统为特点.TSC1和TSC2是TSC两个主要的致病基因,二者中任一基因的突变可导致蛋白质结构变化从而导致功能改变,最终表现为TSC的各种临床表型.目前,已有多个TSC相关的TSC2和TSC1位点突变被发现.然而,临床接诊过程中,我们收治了1例尚未见报道的TSC2基因c.4569+1G>T杂合突变相关的癫痫发作伴色素脱斑的儿童TSC,在此予以报道,以期为TSC相关疾病的临床诊断及研究提供线索.
Abstract
Tuberous sclerosis complex(TSC)is a neurocutaneous syndrome with autosomal dominant inheritance and characterized by the involvement of multiple organ systems.TSC1 and TSC2 are the two main pathogenic genes,and mutations in either of the two gene can lead to changes in protein structure and function,ultimately resulting in various clinical phenotypes of TSC.To date,several TSC-associated TSC2 and TSC1 mutations have been identified.However,during the clinical consultation,we admitted a child with an unreported TSC2 gene c.4569+1G>T heterozygous mutation associated with seizures with depigmentation in TSC,which is reported here to provide clues for the clinical diagnosis and research of TSC-related diseases.
关键词
结节性硬化症/癫痫/TSC2/TSC1/突变Key words
Tuberous sclerosis complex/Epilepsy/TSC2/TSC1/Mutation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据