PDF(Pubmed)
Abstract：
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways.
摘要：
脑瘫（CP）历来归因于后天的侮辱，但新出现的研究表明，遗传变异也是CP的重要原因。虽然微阵列和基于全外显子组测序的研究一直是建立新的CP基因关系并为个体患者提供遗传病因的主要方法。许多CP患者的病因尚不清楚.基因组技术的最新进展为发现人类基因组的变异提供了更多机会，转录组，和先前未被检测到的表观基因组。在这次审查中,我们概述了使用这些最先进的技术来解决CP患者所面临的分子诊断挑战.我们还探讨了尽可能确定分子病因的重要性，鉴于基因组医学有可能提供新的和更精确的方法来治疗CP患者。
