10例以脑发育不良为主要特征的脑瘫患儿的遗传学病因分析  

Genetic analysis of 10 children with cerebral palsy

作　　者：朱庆文[1] 倪玉飞 王婧[1] 印洪刚 张勤[1] 卞文君 张伶莉 林孟思 刘江悦 周君[1] 沙春秀 周翔[1] Zhu Qingwen;Ni Yufei;Wang Jing;Yin Honggang;Zhang Qin;Bian Wenjun;Zhang Lingli;Lin Mengsi;Liu Jiangyue;Zhou Jun;Sha Chunxiu;Zhou Xiang(Nantong Maternal and Child Health Care Hospital, Nantong, Jiangsu 210036, China)

机构地区：[1]江苏省南通市妇幼保健院,210036

出　　处：《中华医学遗传学杂志》2019年第3期229-233,共5页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目(F201560).

摘　　要：目的探讨脑瘫患儿的遗传学病因。方法对表型存在差异的1对双胞胎脑瘫患儿进行全基因组测序,对另外8例脑瘫患儿进行全外显子组测序,用自定义的过滤流程对所发现的基因变异进行筛选,探讨可能与脑瘫相关的生物学通路和基因。结果共发现3个与脑瘫相关的生物学通路,分别为轴突导向通路(axon guidance)、化学突触传播(transmission across chemical synapses)和突触处蛋白相互作用(protein-protein interactions at synapses),同时发现25个脑瘫易感基因。结论对脑瘫相关的分子机制进行了初步探讨,可能为脑瘫的药物开发提供新的线索。Objective To explore the genetic basis of cerebral palsy (CP). Methods A pair of twins with cerebral palsy and different phenotypes were subjected to whole genome sequencing, and other 8 children with CP were subjected to whole exome sequencing. Genetic variations were screened by a self-designed filtration process in order to explore the CP-related biological pathways and genes. Results Three biological pathways related to CP were identified, which included axon guiding, transmission across chemical synapses and protein-protein interactions at synapses, and 25 susceptibility genes for CP were identified. Conclusion The molecular mechanism of CP has been explored, which may provide clues for development of new treatment for CP.

关 键 词：脑瘫 全基因组测序 全外显子测序 生物学通路 

分 类 号：R742.3[医药卫生—神经病学与精神病学]