• Open Access

CNTNAP2 variants affect early language development in the general population

Authors

  • A. J. O. Whitehouse,

    Corresponding author
    1. Telethon Institute for Child Health Research, Centre for Child Health Research
    2. Neurocognitive Development Unit, School of Psychology, University of Western Australia, Perth, Australia
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  • D. V. M. Bishop,

    1. Neurocognitive Development Unit, School of Psychology, University of Western Australia, Perth, Australia
    2. Department of Experimental Psychology, University of Oxford, Oxford, United Kingdom
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  • Q. W. Ang,

    1. School of Women's and Infants' Health, University of Western Australia, Perth, Australia
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  • C. E. Pennell,

    1. School of Women's and Infants' Health, University of Western Australia, Perth, Australia
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  • S. E. Fisher

    1. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    2. Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands
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Errata

This article is corrected by:

  1. Errata: CNTNAP2 variants affect early language development in the general population Volume 11, Issue 4, 501, Article first published online: 7 June 2012

Dr A. Whitehouse, Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, Western Australia. E-mail: awhitehouse@ichr.uwa.edu.au

Abstract

Early language development is known to be under genetic influence, but the genes affecting normal variation in the general population remain largely elusive. Recent studies of disorder reported that variants of the CNTNAP2 gene are associated both with language deficits in specific language impairment (SLI) and with language delays in autism. We tested the hypothesis that these CNTNAP2 variants affect communicative behavior, measured at 2 years of age in a large epidemiological sample, the Western Australian Pregnancy Cohort (Raine) Study. Singlepoint analyses of 1149 children (606 males and 543 females) revealed patterns of association which were strikingly reminiscent of those observed in previous investigations of impaired language, centered on the same genetic markers and with a consistent direction of effect (rs2710102, P = 0.0239; rs759178, P = 0.0248). On the basis of these findings, we performed analyses of four-marker haplotypes of rs2710102–rs759178–rs17236239–rs2538976 and identified significant association (haplotype TTAA, P = 0.049; haplotype GCAG, P = .0014). Our study suggests that common variants in the exon 13–15 region of CNTNAP2 influence early language acquisition, as assessed at age 2, in the general population. We propose that these CNTNAP2 variants increase susceptibility to SLI or autism when they occur together with other risk factors.

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