Program in Neurogenetics, Department of Neurology and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
Neuron. 2013 Jan 23;77(2):209-11. doi: 10.1016/j.neuron.2013.01.010.
In this issue of Neuron, two papers (Lim et al., 2013; Yu et al., 2013) use whole-exome sequencing (WES) to elucidate the contribution of inherited variation to the risk for autism by leveraging the increased penetrance of homozygous and compound heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males. Together, they expand our knowledge about the genetic architecture of ASD, verify previously identified genes, and identify novel mutations that will guide the discovery of the critical biological processes disrupted in autism.
在本期《神经元》中，两篇论文（Lim 等人，2013；Yu 等人，2013）利用全外显子组测序（WES），通过利用常染色体上纯合子和复合杂合子罕见变异以及男性 X 染色体上半合子罕见变异的更高外显率，阐明遗传变异对自闭症风险的贡献。它们共同扩展了我们对 ASD 遗传结构的认识，验证了先前确定的基因，并确定了新的突变，这将指导自闭症中受干扰的关键生物学过程的发现。
