Cleft lip and palate: Understanding genetic and environmental influences

Michael J. Dixon, Mary L. Marazita, Terri H. Beaty, Jeffrey C. Murray

Research output: Contribution to journalReview article

Abstract

Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.

Original languageEnglish (US)
Pages (from-to)167-178
Number of pages12
JournalNature Reviews Genetics
Volume12
Issue number3
DOIs
StatePublished - Mar 1 2011

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ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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