自闭症谱系障碍分子遗传学诊断与研究的新视野

New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder.

作者信息

Al-Dewik Nader, Alsharshani Mohammed

机构信息

Clinical and Metabolic Genetics Section, Pediatrics Department, Hamad General Hospital (HGH) and Women's Wellness and Research Center (WWRC), Doha, Qatar.

Interim Translational Research Institute (iTRI), Hamad Medical Corporation (HMC), Doha, Qatar.

出版信息

Adv Neurobiol. 2020;24:43-81. doi: 10.1007/978-3-030-30402-7_2.

DOI:10.1007/978-3-030-30402-7_2

PMID:32006356

Abstract

Autism spectrum disorder (ASD) is a highly heritable, heterogeneous, and complex pervasive neurodevelopmental disorder (PND) characterized by distinctive abnormalities of human cognitive functions, social interaction, and speech development.Nowadays, several genetic changes including chromosome abnormalities, genetic variations, transcriptional epigenetics, and noncoding RNA have been identified in ASD. However, the association between these genetic modifications and ASDs has not been confirmed yet.The aim of this review is to summarize the key findings in ASD from genetic viewpoint that have been identified from the last few decades of genetic and molecular research.

摘要

自闭症谱系障碍（ASD）是一种高度可遗传、异质性且复杂的广泛性神经发育障碍（PND），其特征为人的认知功能、社交互动和言语发展存在明显异常。如今，在ASD中已发现了包括染色体异常、基因变异、转录表观遗传学和非编码RNA在内的多种基因变化。然而，这些基因修饰与ASD之间的关联尚未得到证实。本综述的目的是从遗传学角度总结过去几十年遗传和分子研究中在ASD方面的关键发现。