PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Nat Genet. 2001 Jul;28(3):214-6. doi: 10.1038/90042.


PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aniridia / genetics*
  • Eye Proteins
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Nervous System Malformations / genetics*
  • Olfaction Disorders / genetics*
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors
  • Repressor Proteins
  • Telencephalon / abnormalities*


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