Jeronimo Lukin , Corinne M. Smith , Silvia De Rubeis
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引用次数: 0
Abstract
A significant source of risk for neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism spectrum disorder (ASD), lies in genes located on the X chromosome. Males can be particularly vulnerable to X-linked variation because of hemizygosity, and male-specific segregation in pedigrees has guided earlier gene discovery for X-linked recessive conditions. More recently, X-linked disorders disproportionally affecting females, with complex inheritance patterns and/or presenting with sex differences, have surfaced. Here, we discuss the genetics and neurobiology of X-linked genes that are paradigmatic to understand NDDs in females. Integrating genetic, clinical, and functional data will be key to understand how X-linked variation contributes to the risk architecture of NDDs.
神经发育障碍（NDD），包括智力障碍（ID）和自闭症谱系障碍（ASD）的一个重要风险源在于位于 X 染色体上的基因。由于半杂合性，男性特别容易受到 X 连锁变异的影响，而血统中男性特异性的分离也为早期发现 X 连锁隐性疾病的基因提供了指导。近来，一些女性患者比例过高、遗传模式复杂和/或表现出性别差异的X连锁疾病浮出水面。在此，我们将讨论 X 连锁基因的遗传学和神经生物学，这些基因是了解女性 NDDs 的典范。整合遗传、临床和功能数据将是了解 X 连锁变异如何导致 NDDs 风险结构的关键。
期刊介绍：
Current Opinion in Neurobiology publishes short annotated reviews by leading experts on recent developments in the field of neurobiology. These experts write short reviews describing recent discoveries in this field (in the past 2-5 years), as well as highlighting select individual papers of particular significance.
The journal is thus an important resource allowing researchers and educators to quickly gain an overview and rich understanding of complex and current issues in the field of Neurobiology. The journal takes a unique and valuable approach in focusing each special issue around a topic of scientific and/or societal interest, and then bringing together leading international experts studying that topic, embracing diverse methodologies and perspectives.
Journal Content: The journal consists of 6 issues per year, covering 8 recurring topics every other year in the following categories:
-Neurobiology of Disease-
Neurobiology of Behavior-
Cellular Neuroscience-
Systems Neuroscience-
Developmental Neuroscience-
Neurobiology of Learning and Plasticity-
Molecular Neuroscience-
Computational Neuroscience
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