Faculdade Israelita de Ciências da Saúde Albert Einstein, Hospital Israelita Albert Einstein, Rua Comendador Elias Jafet, 755. Morumbi, São Paulo 05653-000, Brazil.
Int J Mol Sci. 2024 May 27;25(11):5816. doi: 10.3390/ijms25115816.
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants have been identified. Additionally, common variants with small individual effect size are also important, and a number of loci are now being uncovered. At the same time, these new insights have highlighted ongoing challenges. In this perspective article, we summarize developments in ASD genetic research and address the enormous impact of large-scale genomic initiatives on ASD gene discovery.
自闭症谱系障碍 (ASD) 是一种常见且高度遗传性的神经发育障碍。在过去的 15 年中，基因组技术的进步和越来越大的患者队列的可用性极大地扩展了我们对 ASD 的遗传结构及其神经生物学机制的认识。已经确定了 200 多个携带罕见新生和传递高影响变异的风险区域和基因。此外，个体效应小的常见变体也很重要，现在有一些基因座正在被发现。与此同时，这些新的见解也凸显了持续存在的挑战。在这篇观点文章中，我们总结了 ASD 遗传研究的进展，并讨论了大规模基因组计划对 ASD 基因发现的巨大影响。
