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在阅读障碍家系样本中,重复检测 CNTNAP2 与非词重复的关联性,并验证 FOXP2 与定时阅读和运动活动的关联性。

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample.

机构信息

Department of Speech and Hearing Sciences, University of Washington, P.O. Box 354875, Seattle, WA, 98195, USA,

出版信息

J Neurodev Disord. 2011 Mar;3(1):39-49. doi: 10.1007/s11689-010-9065-0. Epub 2010 Nov 9.

Abstract

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.

摘要

两个功能相关的基因,FOXP2 和 CNTNAP2,分别影响有罕见综合征和常见非综合征形式语言障碍的家族中的语言能力。我们研究了这些基因是否与阅读障碍的组成表型和连续运动能力的测量值相关。我们使用定量传递不平衡测试(QTDT)和线性关联建模来评估与语音记忆(无意义词重复,NWR)、表达性语言(句子重复)、阅读(真实单词阅读效率,RWRE;单词攻击,WATT)和定时连续运动活动(快速交替发音部位,RAPA;惯用手的手指连续,FS-D)的测量值相关的关联,这些测量值在 188 个有阅读障碍孩子的三人家族中进行。与先前的语言障碍研究一致,阅读障碍的 QTDT 显示 CNTNAP2 单核苷酸多态性(SNP)与 NWR 相关的证据。对于 FOXP2,我们提供了第一个 SNP 与阅读障碍的组成表型(特别是 NWR 和 RWRE,但不是 WATT)相关的证据。此外,还观察到 FOXP2 SNP 与 RAPA 和 FS-D 均相关。我们的结果证实了 CNTNAP2 在阅读障碍的 NWR 中的作用,并为 FOXP2 在神经发育障碍中的作用提出了新的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe92/3163991/8d7645b6397d/11689_2010_9065_Fig1_HTML.jpg

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