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Abstract：
Autism spectrum disorders (ASDs) are highly heritable. Gene discovery promises to help illuminate the pathophysiology of these syndromes, yielding opportunities for the development of novel treatments and understanding of their natural history. Although the underlying genetic architecture of ASDs is not yet known, the literature demonstrates that it is not a monogenic disorder with mendelian inheritance, rather a group of complex genetic syndromes with risk deriving from genetic variations in multiple genes. This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries.
摘要：
自闭症谱系障碍（ASDs）具有高度遗传性。基因发现有望帮助阐明这些综合征的病理生理学，为开发新的治疗方法和了解其自然历史提供了机会。尽管ASD的潜在遗传结构尚不清楚，文献表明，它不是孟德尔遗传的单基因疾病，而是一组复杂的遗传综合征，其风险来自多个基因的遗传变异。本文回顾了常见变体与罕见变体辩论的起源，突出了该领域的最新发现，并解决了常见和罕见变异发现的临床意义。
