自闭症的发病机制：多种遗传病因交织而成。
Pathogenesis of autism: a patchwork of genetic causes.
作者信息
Grigorenko Elena L
机构信息
Child Study Center, Department of Psychology, Department of Epidemiology & Public Health, Yale University, 230 South Frontage Road, New Haven, CT 06519-1124, USA, Tel.: +1 203 737 2316, ,
出版信息
Future Neurol. 2009;4(5):591-599. doi: 10.2217/fnl.09.29.
Autism spectrum disorders (ASDs) are relatively infrequent but are devastating developmental conditions characterized by marked deficiencies in social, communicative and other behavioral domains. It has been known for a substantial period of time that these disorders are genetic in nature. However, elucidating the specific mechanisms of these disorders has been difficult. A major reason for such difficulty is the recognized genetic heterogeneity of ASDs. Specifically, many genetic mechanisms related to structural variations in the genome have been reported as possible genetic causes of these disorders. This review briefly exemplifies these genetic mechanisms, presents a concise overview of the evidence for the genetic basis of ASDs and provides an appraisal of the specific structural genetic variants thought to contribute to the pathogenesis of these complex disorders.
自闭症谱系障碍（ASD）相对少见，但却是严重的发育性疾病，其特征是在社交、沟通和其他行为领域存在明显缺陷。长期以来人们都知道这些疾病本质上是遗传性的。然而，阐明这些疾病的具体机制一直很困难。造成这种困难的一个主要原因是ASD公认的遗传异质性。具体而言，许多与基因组结构变异相关的遗传机制已被报道可能是这些疾病的遗传病因。本综述简要举例说明了这些遗传机制，简要概述了ASD遗传基础的证据，并对被认为导致这些复杂疾病发病机制的特定结构遗传变异进行了评估。
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