Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands.
Dyslexia. 2013 Nov;19(4):214-40. doi: 10.1002/dys.1464.
Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs.
阅读障碍是一种具有高度遗传性的学习障碍,其潜在的遗传结构非常复杂。在过去的十年中,研究人员已经确定了一些可能导致阅读障碍易感性的候选基因。在这里,我们提供了该领域的最新概述,描述了研究如何从潜在风险基因座的映射,到相关基因变异的鉴定,再到细胞和动物模型系统中基因功能的表征。迄今为止的工作突出了一些有趣的机制途径,如神经元迁移、轴突导向和纤毛生物学,但很明显,我们仍然需要更多地了解涉及的分子网络。我们在评论的最后强调了荷兰阅读障碍计划在遗传因素研究方面的过去、现在和未来的贡献。特别是,我们强调了将遗传信息与中间神经生物学测量相关联的重要性,以及将纵向和发展数据纳入分子设计的价值。