Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Department of Neuroscience, Child Neuropsychiatric Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jun 8;92:421-427. doi: 10.1016/j.pnpbp.2019.02.012. Epub 2019 Feb 20.
In recent years, there has been an explosive increase in genetic studies related to autism spectrum disorder (ASD). This implicated the accumulation of a large amount of molecular data that may be used to verify various hypotheses and models developed to explore the complex genetic component of ASD. Several lines of evidence support the view that structural genomic variation contributes to the pathogenesis of ASD. The introduction of more sophisticated techniques for whole-genome screening, including array comparative genome hybridization and high-resolution single nucleotide polymorphism analysis, has allowed to identify an increasing number of ASD susceptibility loci. Copy number variants (CNVs) are the most common type of structural variation in the human genome and are considered important contributors to the pathogenesis of neurodevelopmental disorders, including ASD. In this review, we describe the accumulated evidence concerning the genetic events associated with ASD, and summarize current knowledge about the clinical relevance of CNVs in these disorders.
近年来，与自闭症谱系障碍（ASD）相关的基因研究呈爆炸式增长。这意味着积累了大量的分子数据，这些数据可用于验证各种假设和模型，以探索 ASD 的复杂遗传成分。有几条证据支持结构基因组变异导致 ASD 发病机制的观点。全基因组筛查更复杂的技术，包括阵列比较基因组杂交和高分辨率单核苷酸多态性分析的引入，已经能够识别出越来越多的 ASD 易感基因座。拷贝数变异（CNVs）是人类基因组中最常见的结构变异类型，被认为是神经发育障碍（包括 ASD）发病机制的重要因素。在这篇综述中，我们描述了与 ASD 相关的遗传事件的累积证据，并总结了目前关于这些疾病中 CNVs 的临床相关性的知识。
