Support for EKN1 as the susceptibility locus for dyslexia on 15q21

Mol Psychiatry. 2004 Dec;9(12):1111-21. doi: 10.1038/


Dyslexia has been linked to a number of chromosomal regions including 15q. Recently a gene, EKN1, with unknown function in the linked region, was identified via a translocation breakpoint. This gene was further supported as a susceptibility locus by association studies in a Finnish sample. We investigated the possibility of this locus as a susceptibility gene contributing to dyslexia, analyzed as a categorical trait, and analyzed key reading phenotypes as quantitative traits using six polymorphisms including the two previously reported to be associated with dyslexia. In our sample of 148 families identified through a proband with reading difficulties, we found significant evidence for an association to dyslexia analyzed as a categorical trait and found evidence of association to the reading and related processes of phonological awareness, word identification, decoding, rapid automatized naming, language ability, and verbal short-term memory. However, association was observed with different alleles and haplotypes than those reported to be associated in a Finnish sample. These findings provide support for EKN1 as a risk locus for dyslexia and as contributing to reading component processes and reading-related abilities. Based on these findings, further studies of this gene in independent samples are now required to determine the relationship of this gene to dyslexia.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15 / genetics*
  • Cytoskeletal Proteins
  • Dyslexia / genetics*
  • Genetic Linkage
  • Genetic Markers
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Phenotype
  • Reading
  • Siblings
  • Verbal Behavior / physiology


  • Cytoskeletal Proteins
  • DNAAF4 protein, human
  • Genetic Markers
  • Nerve Tissue Proteins
  • Nuclear Proteins