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MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

Nature Genetics volume 24, pages 342–343 (2000)Cite this article

An Errata/Corrections to this article was published on 01 May 2000

Abstract

A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and cleft palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1. The mutant phenotype of the family is similar to that of the Msx1-mutant mouse.

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Figure 1: Segregation of clefting and tooth agenesis.
Figure 2: MSX1 nonsense mutation.

References

  1. Schutte, B.C. & Murray, J.C. Hum. Mol. Genet. 8, 1853–1859 (1999).

    CAS  Article  Google Scholar 

  2. Vanderas, A.P. Cleft Palate J. 24, 216–225 (1987).

    CAS  PubMed  Google Scholar 

  3. Murray, J.C. et al. Cleft Palate Craniofac. J. 34, 7– 10 (1997).

    CAS  PubMed  Google Scholar 

  4. Croen, L.A., Shaw, G.M., Wasserman, C.R. & Tolarová, M.M. Am. J. Med. Genet. 79, 42–47 (1998).

    CAS  Article  Google Scholar 

  5. Tolarová, M.M. & Cervenka, J. Am. J. Med. Genet. 75, 126–137 ( 1998).

    Article  Google Scholar 

  6. FitzPatrick, D. & Farral, I.M. J. Craniofac. Genet. Dev. Biol. 13, 230–235 (1993).

    CAS  PubMed  Google Scholar 

  7. Christensen, K. & Mitchell, L.E. Am. J. Hum. Genet. 58, 182–190 ( 1996).

    CAS  PubMed  PubMed Central  Google Scholar 

  8. Lidral, A.C. et al. Am. J. Hum. Genet. 63, 557– 568 (1998).

    CAS  Article  Google Scholar 

  9. Satokata, I. & Maas, R. Nature Genet. 6, 348–356 (1994).

    CAS  Article  Google Scholar 

  10. Satokata, I. et al. Nature Genet. 24, 391– 395 (2000).

    CAS  Article  Google Scholar 

  11. Wilkie, A.O.M. et al. Nature Genet. 24, 387– 390 (2000)

    CAS  Article  Google Scholar 

  12. Vastardis, H., Karimbux, N., Guthua, S.W., Seidman, J.G. & Seidman, C.E. Nature Genet. 13, 417–421 (1996).

    CAS  Article  Google Scholar 

  13. Hewitt, J.E., Clark, L.N., Ivens, A. & Williamson, R. Genomics 11, 670–678 (1991).

    CAS  Article  Google Scholar 

  14. Hu, G. et al. Mol. Cell. Biol. 18, 6044– 6051 (1998).

    CAS  Article  Google Scholar 

  15. Fraser, F.C. Am. J. Hum. Genet. 22, 336–352 (1970).

    CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We thank P.L. Pearson for his suggestions in preparing this manuscript.

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Authors and Affiliations

  1. Department of Medical Genetics, University Medical Center Utrecht, The Netherlands

    Marie-José H. van den Boogaard, Marinus Dorland, Frits A. Beemer & Hans Kristian Ploos van Amstel

Authors
  1. Marie-José H. van den Boogaard
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  2. Marinus Dorland
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  3. Frits A. Beemer
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  4. Hans Kristian Ploos van Amstel
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van den Boogaard, MJ., Dorland, M., Beemer, F. et al. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24, 342–343 (2000). https://doi.org/10.1038/74155

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