The complex genetics in autism spectrum disorders
The complex genetics in autism spectrum disorders
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DOI：
10.1007/s11427-015-4893-5
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发表时间：
2015-08
期刊：
影响因子：
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通讯作者：
Rui Hua;Mengping Wei;Chen Zhang
中科院分区：
文献类型：
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作者：
Rui Hua;Mengping Wei;Chen Zhang
自闭症谱系障碍（ASD）是一种广泛的神经发育疾病，其特征是社会互动和非语言交流的缺陷，以及有限的兴趣和刻板行为。遗传变化/遗传性是主要的影响因素之一，并且数百至数千个致病和易感基因、拷贝数变体（CNV）、连锁区域和microRNA与ASD相关，这清楚地表明ASD是一种复杂的遗传疾病。在这里，我们将简要总结一些高置信度的遗传变化在ASD及其发病机制中可能发挥的作用。
Autism spectrum disorders (ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants (CNVs), linkage regions, and microRNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.