Abstract
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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Acknowledgements
We thank the participating subjects and M. Robertson for preparing cell lines from several aniridia subjects. This work was supported by MRC Programme and Cooperative Group Component Grants (S.M.S., T.N.M., S.L.F., S.D.S.). I.M.H. holds an MRC Career Development Award.
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Sisodiya, S., Free, S., Williamson, K. et al. PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 28, 214–216 (2001). https://doi.org/10.1038/90042
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DOI: https://doi.org/10.1038/90042
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