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Breakthroughs in the search for dyslexia candidate genes.

机译:在寻找阅读障碍候选基因方面取得突破。

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摘要

Four genes have recently been proposed as candidates for dyslexia: dyslexia susceptibility 1 candidate 1 (DYX1C1), roundabout Drosophila homolog 1 (ROBO1), doublecortin domain-containing protein 2 (DCDC2) and KIAA0319. Each gene is implicated in global brain-development processes such as neural migration and axonal guidance, with the exception of DYX1C1, the function of which is still unknown. The most immediate clinical prospect of the discovery of these genes is the possibility of early identification of dyslexia via genetic screening. However, research efforts have yet to identify a functional mutation in any of these genes. When causal variants are identified, they will need to be considered within a multifactorial framework, which is likely to involve gene-gene and gene-environment interactions, to make accurate predictions of diagnostic status.
机译:最近提出了四个基因作为阅读障碍的候选基因:阅读障碍易感性1候选1(DYX1C1),果蝇回旋同源蛋白1(ROBO1),含双皮质素域的蛋白质2(DCDC2)和KIAA0319。除DYX1C1以外,每个基因都与全球大脑发育过程(例如神经迁移和轴突引导)有关,但DYX1C1的功能仍未知。这些基因的发现的最直接的临床前景是通过基因筛选早期识别阅读障碍的可能性。然而,研究工作尚未鉴定出任何这些基因中的功能性突变。当确定因果变异时,将需要在多因素框架内考虑它们,这可能涉及基因-基因和基因-环境的相互作用,以准确预测诊断状态。

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