Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela (original) (raw)

Nature Genetics volume 29, pages 141–142 (2001)Cite this article

Abstract

Non-syndromic cleft lip with or without cleft palate (CL/P, MIM 119530) is among the most common of major birth defects. Homozygosity for a nonsense mutation of PVRL1, W185X, results in an autosomal recessive CL/P syndrome on Margarita Island, CLPED1 (ref. 1). Here we demonstrate highly significant association between heterozygosity for this mutation and sporadic, non-syndromic CL/P in northern Venezuela.

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References

  1. Suzuki, K. et al. Nature Genet. 25, 427–430 (2000).
    Article CAS Google Scholar
  2. Tolarova M.M. & Cervenka, J. Am. J. Med. Genet. 75,126–137 (1998).
    Article CAS Google Scholar
  3. Schutte, B.C. & Murray, J.C. Hum. Molec. Genet . 8, 1853–1859 (1999).
    Article CAS Google Scholar
  4. Mitchell, L.E. & Risch, N. Am. J. Hum. Genet. 51, 323–332 (1992).
    CAS PubMed Central Google Scholar
  5. Mitchell, L.E. Epidemiol. Rev. 19, 61–68 (1997).
    Article CAS Google Scholar
  6. Spritz, R.A. Current Opinion in Pediatrics 13, in press (2001).
    Google Scholar
  7. Bustos, T. et al. Am. J. Med. Genet. 41, 398–404 (1991).
    Article CAS Google Scholar
  8. Suzuki, K., Bustos, T. & Spritz, R.A. Am. J. Hum. Genet. 63,1102–1107 (1998).
    Article CAS Google Scholar
  9. Melnick, M., Bixler, D., Fogh-Anderson, P and Conneally, P.M. Am. J. Med. Genet. 6, 83–97 (1980).
    Article CAS Google Scholar
  10. Tolarova, M. Scand. J. Plast. Reconstr. Surg. 21, 19–25 (1987).
    Article CAS Google Scholar
  11. Young, D.L., Schneider, R.A., Hu, D. & Helms, J.A. Crit. Rev. Oral Biol. Med. 11, 304–317 (2000).
    Article CAS Google Scholar
  12. Juriloff, J.M., Harris, M.J., & Brown, C.J. Mamm. Genome 12, 426–435 (2001).
    Article CAS Google Scholar
  13. Braybrook, C. et al. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nature Genet. 29, 179–183 (2001).
    Article CAS Google Scholar

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Acknowledgements

We thank C.A. Miller for technical assistance. This work was supported in part by grants from the March of Dimes Birth Defects Foundation (FY99-609), the National Foundation for Ectodermal Dysplasia, and the National Institutes of Health (DE13571) to R.A.S., and support from Rotaplast International, Inc. to M.M.T.

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Author notes

  1. Mehmet A. Sözen and Koji Suzuki: These authors contributed equally to this work.

Authors and Affiliations

  1. Human Medical Genetics Program, University of Colorado Health Sciences Center, Denver, Colorado, USA
    Mehmet A. Sözen, Koji Suzuki & Richard A. Spritz
  2. Department of Orthodontics, University of the Pacific, San Francisco, California, USA
    Marie M. Tolarova
  3. Centro Nacional de Genética Humana y Experimental, Universidad Central de Venezuela, Caracas, Venezuela
    Tania Bustos
  4. Centro de Diagnóstico Odontologica, Porlamar, Isla de Margarita, Venezuela
    Jesús E. Fernández Iglesias

Authors

  1. Mehmet A. Sözen
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  2. Koji Suzuki
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  3. Marie M. Tolarova
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  4. Tania Bustos
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  5. Jesús E. Fernández Iglesias
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  6. Richard A. Spritz
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Corresponding author

Correspondence toRichard A. Spritz.

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Sözen, M., Suzuki, K., Tolarova, M. et al. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.Nat Genet 29, 141–142 (2001). https://doi.org/10.1038/ng740

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