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A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32
  1. N Kaminen1,
  2. K Hannula-Jouppi1,
  3. M Kestilä1,2,
  4. P Lahermo3,
  5. K Muller4,
  6. M Kaaranen4,
  7. B Myllyluoma5,
  8. A Voutilainen5,
  9. H Lyytinen4,
  10. J Nopola-Hemmi1,5,6,
  11. J Kere1,7
  1. 1Department of Medical Genetics, Biomedicum, University of Helsinki, Finland
  2. 2Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
  3. 3Finnish Genome Centre, University of Helsinki, Finland
  4. 4Department of Psychology and Child Research Centre, University of Jyväskylä, Finland
  5. 5Department of Paediatric Neurology, Hospital for Children and Adolescents, University of Helsinki, Finland
  6. 6Department of Paediatrics, Jorvi Hospital, Espoo, Finland
  7. 7Department of Biosciences at Novum and Clinical Research Centre, Karolinska Institute, Sweden
  1. Correspondence to:
 Professor J Kere, Karolinska Institute, Department of Biosciences at Novum, 14157 Huddinge, Sweden; 
 juha.kere{at}biosci.ki.se

Abstract

Developmental dyslexia is a distinct learning disability with unexpected difficulty in learning to read despite adequate intelligence, education, and environment, and normal senses. The genetic aetiology of dyslexia is heterogeneous and loci on chromosomes 2, 3, 6, 15, and 18 have been repeatedly linked to it. We have conducted a genome scan with 376 markers in 11 families with 38 dyslexic subjects ascertained in Finland. Linkage of dyslexia to the vicinity of DYX3 on 2p was confirmed with a non-parametric linkage (NPL) score of 2.55 and a lod score of 3.01 for a dominant model, and a novel locus on 7q32 close to the SPCH1 locus was suggested with an NPL score of 2.77. The SPCH1 locus has previously been linked with a severe speech and language disorder and autism, and a mutation in exon 14 of the FOXP2 gene on 7q32 has been identified in one large pedigree. Because the language disorder associated with the SPCH1 locus has some overlap with the language deficits observed in dyslexia, we sequenced the coding region of FOXP2 as a candidate gene for our observed linkage in six dyslexic subjects. No mutations were identified. We conclude that DYX3 appears to be important for dyslexia susceptibility in many Finnish families, and a suggested linkage of dyslexia to chromosome 7q32 will need verification in other data sets.

  • DYX3
  • genetic linkage
  • reading disability
  • FOXP2
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