PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans (original) (raw)

• Brief Communication
• Published: July 2001
• 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 Heyningen3

Nature Genetics volume 28, pages 214–216 (2001)Cite this article

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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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Figure 1: Visible MRI abnormalities in PAX6 subjects.

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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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Authors and Affiliations

1. University Department of Clinical Neurology, Epilepsy Research Group, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, UK
   Sanjay M. Sisodiya, Samantha L. Free, Tejal N. Mitchell, John M. Stevens & Simon D. Shorvon
2. National Society for Epilepsy, Chalfont-St-Peter, Buckinghamshire, SL9 0RJ, UK
   Sanjay M. Sisodiya, Samantha L. Free, Tejal N. Mitchell, John M. Stevens & Brian E. Kendall
3. MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK
   Kathleen A. Williamson, Isabel M. Hanson & Veronica van Heyningen
4. Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK
   Catherine Willis & Anthony T. Moore
5. Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2QQ, UK
   Anthony T. Moore

Authors

1. Sanjay M. Sisodiya
2. Samantha L. Free
3. Kathleen A. Williamson
4. Tejal N. Mitchell
5. Catherine Willis
6. John M. Stevens
7. Brian E. Kendall
8. Simon D. Shorvon
9. Isabel M. Hanson
10. Anthony T. Moore
11. Veronica van Heyningen

Corresponding author

Correspondence toSanjay M. Sisodiya.

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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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• Received: 22 February 2001
• Accepted: 18 May 2001
• Issue date: July 2001
• DOI: https://doi.org/10.1038/90042

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