Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • News & Views
  • Published:

The pit, the cleft and the web

Nature Genetics volume 32, pages 219–220 (2002)Cite this article

Orofacial clefts (cleft lip and/or palate) are among the most common birth defects in humans, affecting up to 1 in 500 infants at birth. The cause of the most common syndromic clefting condition, Van der Woude syndrome, has now been identified as haploinsufficiency of the gene encoding interferon regulatory factor 6 (IRF6). Furthermore, dominant-negative mutations of IRF6 lead to webbing of the skin in popliteal pterygium syndrome, demonstrating beyond doubt that these syndromes are allelic.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Diagram of various types of orofacial clefting.
Figure 2: Individuals with various types of orofacial clefting with known and unknown etiologies.

References

  1. Kondo, S. et al. Nat. Genet. 32 (2002); advance online publication, 3 September 2002 (doi:10.1038/ng985).

  2. Fogh-Anderson, P. Inheritance of Harelip and Cleft Palate (Munksgaard, Copenhagen, 1942).

    Google Scholar 

  3. Murray, J.C. Clin. Genet. 61, 248–256 (2002).

    Article  CAS  Google Scholar 

  4. Spritz, R.A. Curr. Opin. Pediatr. 13, 556–560 (2001).

    Article  CAS  Google Scholar 

  5. Gorlin, R.J. et al. Syndromes of the Head and Neck (Oxford University Press, New York, 2001).

    Google Scholar 

  6. Van der Woude, A. Am. J. Hum. Genet. 6, 244–256 (1954).

    CAS  PubMed  PubMed Central  Google Scholar 

  7. Schutte, B.C. et al. Genome Res. 110, 81–94 (2000).

    Google Scholar 

  8. Machin, G.A. Am. J. Med. Genet. 61, 216–228 (1996).

    Article  CAS  Google Scholar 

  9. Bamford, R. et al. Nature Genet. 26, 365–369 (2000).

    Article  CAS  Google Scholar 

  10. Houdayer, C. et al. Am. J. Med. Genet. 104, 86–92 (2001).

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892-1852, Maryland, USA

    Maximilian Muenke

Authors
  1. Maximilian Muenke
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Muenke, M. The pit, the cleft and the web. Nat Genet 32, 219–220 (2002). https://doi.org/10.1038/ng1002-219

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1038/ng1002-219

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing