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