Nature Genetics
28, 214 - 216 (2001)
doi:10.1038/90042
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humansSanjay M. Sisodiya1, 2, Samantha L. Free1, 2, Kathleen A. Williamson3, Tejal N. Mitchell1, 2, Catherine Willis4, John M. Stevens1, 2, Brian E. Kendall2, Simon D. Shorvon1, Isabel M. Hanson3, Anthony T. Moore4, 5
& Veronica van Heyningen31
Epilepsy Research Group, University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. 2
National Society for Epilepsy, Chalfont-St-Peter, Buckinghamshire SL9 0RJ, UK. 3
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK. 4
Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK. 5
Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ,UK.
Correspondence should be addressed to Sanjay M. Sisodiya sisodiya@ion.ucl.ac.uk
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 eye1. 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.
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