Genetics of the polymicrogyria syndromes

J Med Genet. 2005 May;42(5):369-78. doi: 10.1136/jmg.2004.023952.


Polymicrogyria is a relatively common malformation of cortical development, characterised by multiple small gyri with abnormal cortical lamination. The different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings. Advances in imaging have improved the diagnosis and classification of the condition. The molecular basis of polymicrogyria is beginning to be elucidated with the identification of a gene, GPR56, for bilateral frontoparietal polymicrogyria. Functional studies of the GPR56 gene product will yield insights not only into the causes of polymicrogyria but also into the mechanisms of normal cortical development and the regional patterning of the cerebral cortex. Based on imaging studies, several other region specific patterns of polymicrogyria have been identified, and there is increasing evidence that these may also have a significant genetic component to their aetiology. This paper reviews current knowledge of the different polymicrogyria syndromes, with discussion of clinical and imaging features, patterns of inheritance, currently mapped loci, candidate genes, chromosomal abnormalities, and implications for genetic counselling.

Publication types

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

MeSH terms

  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Chromosome Aberrations
  • Genetic Counseling
  • Humans
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / epidemiology
  • Nervous System Malformations / genetics
  • Syndrome