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PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

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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References

  1. Hanson, I. & van Heyningen, V. Trends Genet. 11, 268–272 (1995).

    Article  CAS  Google Scholar 

  2. Schmahl, W., Knoedlseder, M., Favor, J. & Davidson, D. Acta Neuropathol. (Berl.) 86, 126–135 (1993).

    Article  CAS  Google Scholar 

  3. Glaser, T. et al. Nature Genet. 7, 463–471 (1994).

    Article  CAS  Google Scholar 

  4. Dellovade, T.L., Pfaff, D.W. & Schwanzel, F.M. J. Comp. Neurol. 402, 402–418 (1998).

    Article  CAS  Google Scholar 

  5. Mastick, G.S., Davis, N.M., Andrew, G.L. & Easter -S.S. Jr. Development 124, 1985–1997 (1997).

    CAS  PubMed  Google Scholar 

  6. Stoykova, A., Fritsch, R., Walther, C. & Gruss, P. Development 26, 3453–3465 (1996).

    Google Scholar 

  7. Di Virgilio, G., Clarke, S., Pizzolato, G. & Schaffner, T. Exp. Brain. Res. 124, 1–7 (1999).

    Article  CAS  Google Scholar 

  8. Warren, N. et al. Cereb. Cortex 9, 627–635 (1999).

    Article  CAS  Google Scholar 

  9. Götz, M., Stoykova, A. & Gruss, P. Neuron 21, 1031–1044 (1998).

    Article  Google Scholar 

  10. Aboitiz, F., Scheibel, A.B., Fisher, R.S. & Zaidel, E. Brain Res. 598, 143–153 (1992).

    Article  CAS  Google Scholar 

  11. Sisodiya, S., Free, S., Fish, D. & Shorvon, S. J. Anat. 188, 425–438 (1996).

    PubMed  PubMed Central  Google Scholar 

  12. Doty, R. L., Shaman, P., Kimmelman, C.P. & Dann, M. S. Laryngoscope 94, 176–178 (1984).

    Article  CAS  Google Scholar 

  13. Martha, A., Strong, L.C., Ferrell, R.E. & Saunders, G.F. Hum. Mutat. 6, 44–49 (1995).

    Article  CAS  Google Scholar 

  14. Schedl, A. et al. Cell 86, 71–82 (1996).

    Article  CAS  Google Scholar 

Download references

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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Correspondence to Sanjay 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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