PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

S M Sisodiya, S L Free, K A Williamson, T N Mitchell, C Willis, J M Stevens, B E Kendall, S D Shorvon, I M Hanson, A T Moore, V van Heyningen

Research output: Contribution to journalArticlepeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)214-6
Number of pages3
JournalNature Genetics
Volume28
Issue number3
DOIs
Publication statusPublished - Jul 2001

Keywords

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

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