首页> 外文期刊>Journal of neurodevelopmental disorders. >Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.
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Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.

机译:CNTNAP2关联的复制与非单词重复,并在阅读障碍家庭样本中支持FOXP2关联与定时阅读和运动活动。

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摘要

Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these genes are associated with component phenotypes of dyslexia and measures of sequential motor ability. Quantitative transmission disequilibrium testing (QTDT) and linear association modeling were used to evaluate associations with measures of phonological memory (nonword repetition, NWR), expressive language (sentence repetition), reading (real word reading efficiency, RWRE; word attack, WATT), and timed sequential motor activities (rapid alternating place of articulation, RAPA; finger succession in the dominant hand, FS-D) in 188 family trios with a child with dyslexia. Consistent with a prior study of language impairment, QTDT in dyslexia showed evidence of CNTNAP2 single nucleotide polymorphism (SNP) association with NWR. For FOXP2, we provide the first evidence for SNP association with component phenotypes of dyslexia, specifically NWR and RWRE but not WATT. In addition, FOXP2 SNP associations with both RAPA and FS-D were observed. Our results confirm the role of CNTNAP2 in NWR in a dyslexia sample and motivate new questions about the effects of FOXP2 in neurodevelopmental disorders.
机译:FOXP2和CNTNAP2是两个功能相关的基因,分别影响具有罕见症状和常见非症状形式的受损语言的家庭的语言能力。我们调查了这些基因是否与阅读障碍的成分表型有关,并测量了连续运动能力。使用定量传输不平衡测试(QTDT)和线性关联建模来评估与语音记忆(非单词重复,NWR),表达语言(句子重复),阅读(真实单词阅读效率,RWRE;单词攻击,WATT),和188个有儿童诵读困难的家庭三重奏的定时连续运动活动(快速交替的关节运动位置,RAPA;优势手的手指继承,FS-D)。与先前的语言障碍研究一致,阅读障碍中的QTDT显示CNTNAP2单核苷酸多态性(SNP)与NWR相关的证据。对于FOXP2,我们提供了SNP与阅读障碍的成分表型相关的第一个证据,特别是NWR和RWRE,而不是WATT。此外,还观察到FOXP2 SNP与RAPA和FS-D的关联。我们的结果证实了诵读困难样本中CNTNAP2在NWR中的作用,并引发了有关FOXP2在神经发育障碍中作用的新问题。

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