Wang Fang-Fang, Luo Rong, Qu Yi, Mu De-Zhi
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):1022-1026. doi: 10.7499/j.issn.1008-8830.2017.09.018.
Cerebral palsy is a group of syndromes caused by non-progressive brain injury in the fetus or infant and can cause disabilities in childhood. Etiology of cerebral palsy has always been a hot topic for clinical scientists. More and more studies have shown that genetic factors are closely associated with the development of cerebral palsy. With the development and application of various molecular and biological techniques such as chromosome microarray analysis, genome-wide association study, and whole exome sequencing, new achievements have been made in the genetic research of cerebral palsy. Chromosome abnormalities, copy number variations, susceptibility genes, and single gene mutation associated with the development of cerebral palsy have been identified, which provides new opportunities for the research on the pathogenesis of cerebral palsy. This article reviews the advances in the genetic research on cerebral palsy in recent years.
脑瘫是一组由胎儿或婴儿期非进行性脑损伤引起的综合征，可导致儿童残疾。脑瘫的病因一直是临床科学家们热议的话题。越来越多的研究表明，遗传因素与脑瘫的发生密切相关。随着染色体微阵列分析、全基因组关联研究和全外显子组测序等各种分子生物学技术的发展与应用，脑瘫的遗传学研究取得了新进展。已鉴定出与脑瘫发生相关的染色体异常、拷贝数变异、易感基因和单基因突变，这为脑瘫发病机制的研究提供了新契机。本文综述了近年来脑瘫遗传学研究的进展。
