[PAX6 mutation caused brain abnormalities in humans]

Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18;37(1):48-50.
[Article in Chinese]

Abstract

Objective: To investigate the association between PAX6 mutation and brain abnormalities.

Methods: The brain structures of 18 affected patients and 6 normal controls in a large pedigree with a PAX6 mutation (c1080C-->T)were scanned with MRI assessing.

Results: Most of the affected patients showed brain abnormalities such as corpus callosum degeneration, broad cerebral ventricle grooves and broad olfactory grooves.

Conclusion: Genetic defect of PAX6 gene may result in brain abnormalities.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aniridia / genetics*
  • Brain / abnormalities*
  • Brain / pathology
  • Child
  • Child, Preschool
  • Corpus Callosum / pathology
  • Eye Proteins / genetics*
  • Female
  • Homeodomain Proteins / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • PAX6 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Pedigree
  • Point Mutation*
  • Repressor Proteins / genetics*

Substances

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