The genetic architecture of neurodevelopmental disorders is largely polygenic, non-specific, and pleiotropic. This complex genetic architecture makes the search for specific etiological mechanisms that contribute to neurodevelopmental risk more challenging. Monogenic disorders provide an opportunity to focus in on how well-articulated signaling pathways contribute to risk for neurodevelopmental outcomes. This paper will focus on neurofibromatosis type 1 (NF1), a rare monogenic disorder that is associated with varied neurodevelopmental outcomes. Specifically, this paper will provide a brief overview of NF1 and its phenotypic associations with autism spectrum disorder, attention-deficit/hyperactivity disorder, and specific learning disorders, describe how variation within the NF1 gene increases risk for neurodevelopmental disorders via altered Ras signaling, and provide future directions for NF1 research to help elucidate the genetic architecture of neurodevelopmental disorders in the general population.

中文翻译：

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1 型神经纤维瘤病与神经发育障碍的遗传结构中的 Ras 通路有关。

神经发育障碍的遗传结构主要是多基因的、非特异性的和多效性的。这种复杂的遗传结构使得寻找导致神经发育风险的特定病因机制更具挑战性。单基因疾病提供了一个机会，可以关注清晰的信号通路如何导致神经发育结果的风险。本文将重点介绍 1 型神经纤维瘤病 (NF1)，这是一种与各种神经发育结果相关的罕见单基因疾病。具体而言，本文将简要概述 NF1 及其与自闭症谱系障碍、注意力缺陷/多动障碍和特定学习障碍的表型关联，