Alonso-Gonzalez Aitana, Rodriguez-Fontenla Cristina, Carracedo Angel
Grupo de Medicina Xenómica, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela, Center for Research in Molecular Medicine and Chronic Diseases, Universidade de Santiago de Compostela, Santiago, Spain.
Grupo de Medicina Xenómica, CIBERER, Centre for Research in Molecular Medicine and Chronic Diseases, Universidade de Santiago de Compostela, Santiago, Spain.
Front Genet. 2018 Sep 21;9:406. doi: 10.3389/fgene.2018.00406. eCollection 2018.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder (NDD) defined by impairments in social communication and social interactions, accompanied by repetitive behavior and restricted interests. ASD is characterized by its clinical and etiological heterogeneity, which makes it difficult to elucidate the neurobiological mechanisms underlying its pathogenesis. Recently, mutations (DNMs) have been recognized as strong source of genetic causality. Here, we review different aspects of the DNMs associated with ASD, including their functional annotation and classification. In addition, we also focus on the most recent advances in this area, such as the detection of PZMs (), and we outline the main bioinformatics tools commonly employed to study these. Some of these approaches available allow DNMs to be analyzed in the context of gene networks and pathways, helping to shed light on the biological processes underlying ASD. To end this review, a brief insight into the future perspectives for genetic studies into ASD will be provided.
自闭症谱系障碍（ASD）是一种神经发育障碍（NDD），其定义为社交沟通和社交互动受损，并伴有重复行为和兴趣受限。ASD的特点是临床和病因学的异质性，这使得难以阐明其发病机制背后的神经生物学机制。最近，新发突变（DNMs）已被认为是遗传因果关系的重要来源。在这里，我们综述了与ASD相关的DNMs的不同方面，包括它们的功能注释和分类。此外，我们还关注该领域的最新进展，如PZMs（）的检测，并概述了常用于研究这些的主要生物信息学工具。现有的一些方法允许在基因网络和途径的背景下分析DNMs，有助于阐明ASD背后的生物学过程。在本综述结尾，将简要介绍ASD基因研究的未来前景。
