Variation in IRF6 contributes to nonsyndromic cleft lip and palate

Susan H. Blanton, Amy Cortez, Samuel Stal, John B. Mulliken, Richard H. Finnell, Jacqueline T. Hecht

Research output: Contribution to journalArticle

95 Scopus citations


Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common craniofacial birth defect which results in lifelong medical and social consequences. While there have been a number of attempts to identify the genes responsible for this disorder, the results have not been consistent among populations and no single gene has been identified as playing a major susceptibility role. Van der Woude syndrome, a disorder characterized by lower-lip pits with or without cleft lip/ palate, results in many cases from mutations in the interferon regulatory factor 6 (IRF6) gene. Recently, Zucchero et al. [2004: N Engl J Med 351:769-780] detected an association between SNPs in IRF6 and NSCLP in a number of different populations. A subsequent study by Scapoli et al. [2005: Am J Hum Genet 76:180-183] confirmed this association in an Italian population. We examined the same SNPs as Scapoli et al. [2005] in our large, well-characterized sample of NSCLP families and trios, and also detected an altered transmission of IRF6 alleles. This additional confirmation further strengthens the IRF6 association and suggests that IRF6 plays a role in NSCLP susceptibility.

Original languageEnglish (US)
Pages (from-to)259-262
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume137 A
Issue number3
StatePublished - Sep 1 2005


  • Association
  • Cleft lip and palate
  • Complex disease
  • Genetic variation
  • Linkage
  • Orofacial clefting

ASJC Scopus subject areas

  • Genetics(clinical)

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    Blanton, S. H., Cortez, A., Stal, S., Mulliken, J. B., Finnell, R. H., & Hecht, J. T. (2005). Variation in IRF6 contributes to nonsyndromic cleft lip and palate. American Journal of Medical Genetics, 137 A(3), 259-262.