Polymicrogyria and absence of pineal gland due to PAX6 mutation.
Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.
Mitchell
Tejal N
TN
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London.
Free
Samantha L
SL
Williamson
Kathleen A
KA
Stevens
John M
JM
Churchill
Amanda J
AJ
Hanson
Isabel M
IM
Shorvon
Simon D
SD
Moore
Anthony T
AT
van Heyningen
Veronica
V
Sisodiya
Sanjay M
SM
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D005136:Eye Proteins; 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; D010870:Pineal Gland / Q000002:abnormalities*; D017354:Point Mutation / Q000235:genetics*; D012097:Repressor Proteins
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins