The DCDC2 deletion is not a risk factor for dyslexia


Dyslexia is a specific impairment in learning to read and has strong heritability. An intronic deletion within the DCDC2 gene, with ~8% frequency in European populations, is increasingly used as a marker for dyslexia in neuroimaging and behavioral studies. At a mechanistic level, this deletion has been proposed to influence sensory processing capacity, and in particular sensitivity to visual coherent motion. Our re-assessment of the literature, however, did not reveal strong support for a role of this specific deletion in dyslexia. We also analyzed data from five distinct cohorts, enriched for individuals with dyslexia, and did not identify any signal indicative of associations for the DCDC2 deletion with reading-related measures, including in a combined sample analysis (N=526). We believe we conducted the first replication analysis for a proposed deletion effect on visual motion perception and found no association (N=445 siblings). We also report that the DCDC2 deletion has a frequency of 37.6% in a cohort representative of the general population recruited in Hong Kong (N=220). This figure, together with a lack of association between the deletion and reading abilities in this cohort, indicates the low likelihood of a direct deletion effect on reading skills. Therefore, on the basis of multiple strands of evidence, we conclude that the DCDC2 deletion is not a strong risk factor for dyslexia. Our analyses and literature re-evaluation are important for interpreting current developments within multidisciplinary studies of dyslexia and, more generally, contribute to current discussions about the importance of reproducibility in science.

Publication DOI:
Divisions: College of Health & Life Sciences > School of Psychology
College of Health & Life Sciences > Clinical and Systems Neuroscience
College of Health & Life Sciences > Aston Institute of Health & Neurodevelopment (AIHN)
College of Health & Life Sciences
College of Health & Life Sciences > School of Optometry > Vision, Hearing and Language
Additional Information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit by/4.0/ © The Author(s) 2017
Uncontrolled Keywords: Clinical genetics,Medical genetics
Publication ISSN: 2158-3188
Last Modified: 19 Feb 2024 08:16
Date Deposited: 15 Jan 2018 10:55
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Related URLs: https://www.nat ... icles/tp2017151 (Publisher URL)
PURE Output Type: Article
Published Date: 2017-07-25
Published Online Date: 2017-07-25
Accepted Date: 2017-06-13
Authors: Scerri, T S
Macpherson, E
Martinelli, A
Wa, W C
Monaco, A P
Stein, J
Zheng, M
Suk-Han Ho, C
McBride, C
Snowling, M
Hulme, C
Hayiou-Thomas, M E
Waye, M M Y
Talcott, Joel B (ORCID Profile 0000-0001-7958-8369)
Paracchini, S



Version: Published Version

License: Creative Commons Attribution

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