The molecular genetics and neurobiology of developmental dyslexia as model of a complex phenotype

Biochem Biophys Res Commun. 2014 Sep 19;452(2):236-43. doi: 10.1016/j.bbrc.2014.07.102. Epub 2014 Jul 28.


Among complex disorders, those concerning neuropsychiatric phenotypes involve particular challenges compared to disorders with more easily distinguished clinical signs and measures. One such common and unusually challenging phenotype to disentangle genetically is developmental dyslexia (DD), or reading disability, defined as the inability to learn to read and write for an otherwise normally intelligent child with normal senses and educational opportunity. There is presently ample evidence for the strongly biological etiology for DD, and a dozen susceptibility genes have been suggested. Many of these genes point to common but previously unsuspected biological mechanisms, such as neuronal migration and cilia functions. I discuss here the state-of-the-art in genomic and neurobiological aspects of DD research, starting with short general background to its history.

Keywords: Cilia function; Cognitive function; Neuronal migration; Reading disability; White matter.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Aromatase / genetics
  • Axons / pathology
  • Cell Movement
  • Child
  • Cytoskeletal Proteins
  • Dyslexia / genetics*
  • Dyslexia / pathology*
  • Genetic Linkage
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Language Development*
  • Membrane Proteins
  • Mitochondrial Proteins / genetics
  • Models, Animal
  • Nerve Tissue Proteins / genetics
  • Neuroimaging
  • Neurons / metabolism
  • Neurons / pathology
  • Nuclear Proteins / genetics
  • Phenotype
  • Rats
  • Receptors, Immunologic / genetics
  • Ribosomal Proteins / genetics
  • Roundabout Proteins


  • Cytoskeletal Proteins
  • DNAAF4 protein, human
  • Intracellular Signaling Peptides and Proteins
  • MRPL19 protein, human
  • Membrane Proteins
  • Mitochondrial Proteins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • PTTG1IP protein, human
  • Receptors, Immunologic
  • Ribosomal Proteins
  • Aromatase
  • CYP19A1 protein, human