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。
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.
作者
王雪红
庄生琴
马溪遥
张博
李锋同
WANG Xuehong;ZHUANG Shengqin;MA Xiyao;ZHANG Bo;LI Fengtong(Yan'an People´s Hospital,Yan'an 716000,China;Medical College of Yan'an University,Yan'an 716000,China)
出处
《延安大学学报（医学科学版）》
2024年第1期59-64,共6页
Journal of Yan'an University:Medical Science Edition
