Multiomics approach reveal novel insights in FUS driven Juvenile Amyotrophic Lateral Sclerosis: a family quartet analysis

We have identified a novel de novo variation in FUS gene in a sporadic juvenile ALS patient. FUS is an RNA-binding protein actively involved in various aspect of nucleic acid metabolism. We performed RNA-seq to identify altered transcriptome in juvenile ALS. Identify differentially expressed genes from RNA-seq data in proband compared to family quartet (Father, mother, sister) and control (an unrelated age and gender matched healthy control)

我们在一名散发性青少年型肌萎缩侧索硬化症（ALS）患者体内，鉴定出FUS基因上一种全新的新生（de novo）变异。FUS作为RNA结合蛋白（RNA-binding protein），广泛参与核酸代谢的多个环节。本研究借助RNA测序（RNA-seq）技术，旨在鉴定青少年型ALS患者体内的异常转录组（transcriptome）；同时通过对比先证者（proband）与四人核心家系（父亲、母亲、姐妹）及对照（一名年龄、性别匹配的无关健康个体）的RNA测序数据，筛选差异表达基因。