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[诵读困难的遗传学]

[Genetics of dyslexia].

作者信息

Schulte-Körne Gerd, Warnke Andreas, Remschmidt Helmut

机构信息

1 Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie, Klinikum der Universität München, Pettenkoferstrasse 8a, DE-80336 München.

出版信息

Z Kinder Jugendpsychiatr Psychother. 2006 Nov;34(6):435-44. doi: 10.1024/1422-4917.34.6.435.

DOI:10.1024/1422-4917.34.6.435
PMID:17094062
Abstract

Dyslexia is a very common developmental disorder. The aetiology of this complex disorder must in large part still be clarified. Dyslexia segregates in families and the risk for a sibling to become dyslexic is 3.5-fold increased. Different phenotypic dimensions are correlated with dyslexia. These are mainly phonological awareness, phonological decoding, orthographic coding, auditory short-term memory, and rapid naming. The correlated dimensions segregate in families and were found to be heritable. The heritability of word reading lies between 50% and 60%, and that of spelling between 50% and 70%. Based on genome wide linkage analyses, nine candidate gene regions (DYX1-DYX9) could be identified. Recently, four candidate genes, DCDC2, KIAA0319, ROBO1 and DYX1C1 were identified by systematic association analyses. All these genes play a function role in neuronal migration, making them promising candidate genes for dyslexia. However, a functionally relevant mutation has not yet been identified. The comorbidity between dyslexia and ADHD and between dyslexia and SLI could be explained, at least in part, by genetic factors. For future research, all relevant factors playing a functional role in dyslexia should be investigated in sufficiently large samples. This research should integrate genetic, neurobiological, and environmental factors. For an understanding of causes, it is very helpful to understand the interaction between different factors, namely gene-environmental and gene-gene interaction. In a recent project funded by the EU in the Sixth Framework (www.neurodys.com), the worldwide largest sample of children with dyslexia will be sampled and investigated. The goal of this project is to investigate the biological basis of dyslexia in order to improve the basis for the development of successful diagnostics and therapies.

摘要

阅读障碍是一种非常常见的发育障碍。这种复杂障碍的病因在很大程度上仍有待阐明。阅读障碍在家族中具有聚集性,兄弟姐妹患阅读障碍的风险会增加3.5倍。不同的表型维度与阅读障碍相关。这些主要包括语音意识、语音解码、正字法编码、听觉短期记忆和快速命名。这些相关维度在家族中具有聚集性,并且被发现具有遗传性。单词阅读的遗传度在50%至60%之间,拼写的遗传度在50%至70%之间。基于全基因组连锁分析,可以确定九个候选基因区域(DYX1 - DYX9)。最近,通过系统关联分析确定了四个候选基因,即DCDC2、KIAA0319、ROBO1和DYX1C1。所有这些基因在神经元迁移中发挥作用,使其成为阅读障碍有前景的候选基因。然而,尚未鉴定出功能相关的突变。阅读障碍与注意力缺陷多动障碍(ADHD)以及阅读障碍与特定语言障碍(SLI)之间的共病现象至少部分可以由遗传因素解释。对于未来的研究,应在足够大的样本中研究所有在阅读障碍中发挥功能作用的相关因素。这项研究应整合遗传、神经生物学和环境因素。为了理解病因,了解不同因素之间的相互作用,即基因 - 环境和基因 - 基因相互作用非常有帮助。在欧盟第六框架资助的一个近期项目(www.neurodys.com)中,将对全球最大样本的阅读障碍儿童进行采样和研究。该项目的目标是研究阅读障碍的生物学基础,以便改善成功诊断和治疗发展的基础。

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