Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects


Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. In this study we investigate the role of variants in these genes (namely MRPL19/C20RF3, ROBO1, DCDC2, KIAA0319, DYX1C1, CNTNAP2, ATP2C2 and CMIP) in the aetiology of SLI and dyslexia. We perform case–control and quantitative association analyses using measures of oral and written language skills in samples of SLI and dyslexic families and cases. We replicate association between KIAA0319 and DCDC2 and dyslexia and provide evidence to support a role for KIAA0319 in oral language ability. In addition, we find association between reading-related measures and variants in CNTNAP2 and CMIP in the SLI families.

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 article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
Uncontrolled Keywords: dyslexia,specific language impairment,SLI,genetics,association
Publication ISSN: 1573-3297
Last Modified: 15 May 2024 07:08
Date Deposited: 07 Feb 2012 13:08
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Related URLs: http://www.scop ... tnerID=8YFLogxK (Scopus URL)
http://www.spri ... q1w4441018156u/ (Publisher URL)
PURE Output Type: Article
Published Date: 2011-01
Authors: Newbury, D.F.
Paracchini, S.
Scerri, T.S.
Winchester, L.
Addis, L.
Richardson, A.J.
Walter, J.
Stein, J.F.
Talcott, J.B. (ORCID Profile 0000-0001-7958-8369)
Monaco, A.P.


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