自闭症表型严重程度的遗传变异。
Genetic Variation across Phenotypic Severity of Autism.
机构信息
Neuroscience Research Australia, Sydney, NSW, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia; Centro de Biología Molecular 'Severo Ochoa', Universidad Autónoma de Madrid/CSIC, 28049 Madrid, Spain.
出版信息
Trends Genet. 2020 Apr;36(4):228-231. doi: 10.1016/j.tig.2020.01.005. Epub 2020 Feb 6.
It is still unclear how genetic factors of autism spectrum disorder (ASD) are implicated in the significant clinical heterogeneity ranging from intellectual disability (ID) to high-functioning profiles. Here, evidence from recent genetic studies encompassing common and rare variants are combined to suggest a genetic model that may explain the broad gradient of phenotypic severity observed in ASD.
自闭症谱系障碍 (ASD) 的遗传因素如何影响从智力障碍 (ID) 到高功能表型的显著临床异质性尚不清楚。在这里，综合了最近涵盖常见和罕见变异的遗传研究证据，提出了一个遗传模型，该模型可能解释了 ASD 中观察到的表型严重程度的广泛梯度。
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