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

D.F. Newbury, S. Paracchini, T.S. Scerri, L. Winchester, L. Addis, A.J. Richardson, J. Walter, J.F. Stein, J.B. Talcott, A.P. Monaco

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)90-104
Number of pages15
JournalBehavior Genetics
Issue number1
Publication statusPublished - Jan 2011

Bibliographical note

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.


  • dyslexia
  • specific language impairment
  • SLI
  • genetics
  • association


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