Cleft lip and palate: understanding genetic and en... [Nat Rev Genet. 2011] - PubMed result

Nat Rev Genet. 2011 Mar;12(3):167-78.

Cleft lip and palate: understanding genetic and environmental influences.
Dixon MJ, Marazita ML, Beaty TH, Murray JC.

Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.

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.

PMID: 21331089 [PubMed - in process]

Cleft lip and palate: understanding genetic and en... [Nat Rev Genet. 2011] - PubMed result