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The pit, the cleft and the web

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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.

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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 

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Authors and Affiliations

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

    Maximilian Muenke

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

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