title: Cleft lip and palate: understanding genetic and environmental influences.
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.
authors.affiliation: Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Dixon
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
mesh_terms: D000818:Animals; D002971:Cleft Lip / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D004777:Environment; D005260:Female; D005786:Gene Expression Regulation; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation