Polymicrogyria and absence of pineal gland due to PAX6 mutation

Ann Neurol. 2003 May;53(5):658-63. doi: 10.1002/ana.10576.


Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Aged
  • Brain / abnormalities*
  • DNA Mutational Analysis
  • Eye Proteins
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Pineal Gland / abnormalities*
  • Point Mutation / genetics*
  • Repressor Proteins


  • Eye Proteins
  • Homeodomain Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human
  • Paired Box Transcription Factors
  • Repressor Proteins