外显子测序在不明原因智力障碍病因学研究的应用进展

Update in the application of exome sequencing for etiology of the unexplained intellectual disabilities

智力障碍是一种具有显著的遗传异质性疾病，目前仍有超过半数的患者病因未明。自全外显子测序技术应用于智力障碍疾病以来，逐渐形成了一套较成熟的工作流程图，并且首次发现了部分重要的致病基因。该文主要针对全外显子测序在散发的、不明原因的智力障碍患者中的应用及其优缺点进行综述。

Intellectual disability is a genetically heterogeneous disease, however, more than half of the genetic etiologies still remain unexplained. Since whole exome sequencing is applied for intellectual disability, a mature work flow has been established, which firstly discovered some important causative genes. This paper reviews the application, advantages and disadvantages of whole exome sequencing for sporadic, unexplained intellectual disability.