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Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation

Molecular Psychiatry volume 15, pages 1190–1196 (2010)Cite this article

Abstract

The status of DYX1C1 (C15q21.3) as a susceptibility gene for dyslexia is unclear. We report the association of this gene with reading and spelling ability in a sample of adolescent twins and their siblings. Family-based association analyses were carried out on 13 single-nucleotide polymorphisms (SNPs) in DYX1C1, typed in 790 families with up to 5 offspring and tested on 6 validated measures of lexical processing (irregular word) and grapheme–phoneme decoding (pseudo-word) reading- and spelling-based measures of dyslexia, as well as a short-term memory measure. Significant association was observed at the misssense mutation rs17819126 for all reading measures and for spelling of lexical processing words, and at rs3743204 for both irregular and nonword reading. Verbal short-term memory was associated with rs685935. Support for association was not found at rs3743205 and rs61761345 as previously reported by Taipale et al., but these SNPs had very low (0.002 for rs3743205) minor allele frequencies in this sample. These results suggest that DYX1C1 influences reading and spelling ability with additional effects on short-term information storage or rehearsal. Missense mutation rs17819126 is a potential functional basis for the association of DYX1C1 with dyslexia.

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Acknowledgements

We thank the twins and their parents for their cooperation; Anjali Henders and Megan Campbell for managing sample processing and DNA extraction; Alison Mackenzie for coordinating the reading test battery mail out; Thanuja Gunasekera for coordinating the language test battery mail out; Marlene Grace, Ann Eldridge and the research interviewers for data collection. We thank The Royal Society of Edinburgh, The Office of the Chief Scientist of Scotland, The Australian Research Council and the National Health and Medical Research Council for present and past support of this research. ML is a Royal Society of Edinburgh/Lloyds TSB Foundation for Scotland Personal Research Fellow.

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Authors and Affiliations

  1. Department of Psychology, University of Edinburgh, Edinburgh, UK

    T C Bates & M Luciano

  2. Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, UK

    T C Bates, P A Lind, M Luciano, G W Montgomery, N G Martin & M J Wright

  3. Centre for Cognitive Aging and Cognitive Epidemiology, University of Edinburgh, Edinburgh, UK

    M Luciano

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Correspondence to T C Bates.

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Bates, T., Lind, P., Luciano, M. et al. Dyslexia and DYX1C1: deficits in reading and spelling associated with a missense mutation. Mol Psychiatry 15, 1190–1196 (2010). https://doi.org/10.1038/mp.2009.120

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