Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, NY 10314, United States.
Brain Res Bull. 2012 Sep 1;88(6):543-52. doi: 10.1016/j.brainresbull.2012.05.017. Epub 2012 Jun 9.
Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. The majority of the data are based on molecular, cytogenetic, linkage and association studies of autistic subjects, but newer methods, including whole-exome sequencing, are also beginning to make significant contributions to our understanding of autism.
自闭症谱系障碍 (ASD) 是一组神经发育障碍的异质性疾病，其特征是社交互动、言语交流和重复/刻板行为受损。大量证据表明，ASD 具有很强的遗传基础，是一种多因素疾病，但潜在机制尚不清楚。遗传技术的最新进展开始揭示 ASD 的可能病因。本文讨论了目前广泛研究的几个候选 ASD 基因的证据，以及支持它们与 ASD 病因关系的各种罕见基因。这些数据主要基于对自闭症患者的分子、细胞遗传学、连锁和关联研究，但包括全外显子组测序在内的更新方法也开始为我们理解自闭症做出重大贡献。
