[PAX6 mutation caused brain abnormalities in humans].
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.


CONCLUSIONS
Genetic defect of PAX6 gene may result in brain abnormalities.
Song
Shu-juan
SJ
Peking University Stem Cell Research Center, Beijing 100083, China.
Liu
Ying-zhi
YZ
Cong
Ri-chang
RC
Zhang
Xiao-yan
XY
Yang
Zhen-jiang
ZJ
Li
Ling-song
LS
D000293:Adolescent; D000328:Adult; D000368:Aged; D015783:Aniridia / Q000235:genetics*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012097:Repressor Proteins / Q000235:genetics*
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins