Human Molecular Genetics, 1999, Vol. 8, No. 10 1853-1859
© 1999 Oxford University Press
Review |
The many faces and factors oforofacial clefts
1Department of Pediatricsand 2Department of BiologicalSciences, Department of Preventive Medicine and Environmental Healthand Department of Pediatric Dentistry, University of Iowa, IowaCity, IA 52242-1083, USA
ABSTRACT
Orofacial clefts are congenital structural anomaliesof the lip and/or palate that affect ~1/1000live births. Their frequent occurrence as well as their extensivepsychological, surgical, speech and dental involvement emphasizethe importance of understanding the underlying causes. The etiologyof orofacial clefts is complex, including multiple genetic and environmentalfactors. Rare forms, where they occur as one component of multiplecongenital anomaly syndromes, have Mendelian or teratogenic origins;the non-syndromic forms of orofacial clefts are more common andare likely due to secondary gene–environment interactions.Recent advances in both molecular and quantitative approaches havebegun to identify the genes responsible for the rare syndromic formsof cleft and have also identified both candidate genes and locifor the more common and complex non-syndromic variants. Animal models,in particular the mouse, have also contributed greatly to an understandingof these disorders. This review describes genes that are involvedin orofacial clefts in humans and animal models and explores geneticapproaches to identifying additional genes and gene–environment interactionsthat constitute the many factors of orofacial clefts.
FOOTNOTES
a To whomcorrespondence should be addressed at: Department of Pediatrics,University of Iowa, 200 Hawkins Drive, W229-1 GH, Iowa City, IA52242-1083, USA. Tel: +1 319 335 6897; Fax: +1319 335 6970; Email: jeff-murray{at}uiowa.edu
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