Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case-control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families.

译文

:阅读障碍(或阅读障碍)和特定语言障碍(或SLI)是常见的儿童疾病,表现出大量的合并症和诊断重叠,并被建议分享一些遗传病因。最近,已经确定了SLI和阅读障碍的遗传风险变异,从而可以直接评估这些疾病之间可能共有的遗传影响。在这项研究中,我们调查了这些基因的变异体(即MRPL19 / C20RF3,ROBO1,DCDC2,KIAA0319,DYX1C1,CNTNAP2,ATP2C2和CMIP)在SLI和阅读障碍的病因中的作用。我们使用SLI和阅读障碍家庭和病例样本中的口语和书面语言技能进行病例对照和定量关联分析。我们复制了KIAA0319与DCDC2和阅读障碍之间的关联,并提供了证据来支持KIAA0319在口语能力中的作用。此外,我们发现与阅读有关的措施与SLI家族中CNTNAP2和CMIP的变异之间存在关联。

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