婴儿痉挛症相关拷贝数变异研究进展

Research progress of copy number variations associated with infantile spasms

婴儿痉挛症(ISs)是一种年龄相关的癫痫性脑病,与认知障碍、孤独症谱系障碍及精神运动发育迟缓高度相关。目前已发现多种遗传方式,如染色体异常、拷贝数变异(CNVs)、单基因病等均可导致ISs,其中CNVs或结构性染色体重排在ISs的发病机制中起重要作用。现就CNVs与ISs的研究进展进行综述,以期为深入研究ISs发病的分子机制和遗传基础提供参考。

Infantile spasms(ISs)is an age-dependent epileptic encephalopathy,which is highly associated with cognitive impairment,autism spectrum disorder and developmental delay.At present,inheritance patterns,including chromosomal abnormalities,copy number variations(CNVs),and monogenic diseases have been found to correlated with the etiology of ISs.Among them,CNVs or structural chromosome rearrangements are of great significance in the pathogenesis of ISs.This article aims to review the research progress of CNVs and ISs,thus providing references for further clarifying the molecular mechanism and genetic basis of ISs.