Human Molecular Genetics Advance Access published online on January 13, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh052
© 2004 by Oxford University Press
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1 Institute of Reproductive and Developmental Biology, Imperial College London, London, W12 0NN, UK
* To whom correspondence should be addressed. E-mail: pstanier{at}imperial.ac.uk.
Clefts of the lip and/or palate (CL/P) are among the most common birth defects worldwide. The majority are nonsyndromic where CL/P occurs in isolation of other phenotypes. Where one or more additional features are involved, clefts are refered to as syndromic. Collectively CL/P has a major clinical impact requiring surgical, dental, orthodontic, speech, hearing and psychological treatments or therapies throughout childhood. The aetiology of CL/P is complex and thought to involve both major and minor genetic influences with variable interactions from environmental factors. Using a combination of gene targeting technology and traditional developmental techniques in both mouse and chick, significant progress has been made in the identification of numerous genes and gene pathways critical for craniofacial development. Despite this, it has been a particular source of frustration that mutation screening of specific candidates, association studies and even genome wide scans have largely failed to reveal the molecular basis of human clefting. Nevertheless, some important findings have recently come from studies involving syndromic forms of the disorder. These include several genes which have now been shown to contribute a major effect on the aetiology of CL/P. Furthermore, these genes can also be used to demonstrate a significant overlap between syndromic and nonsyndromic CL/P. The study of these syndromic genes and their molecular pathways will provide a useful and informative route with which to gain a better understanding of human craniofacial pathology.
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Genetics of cleft lip and palate: syndromic genes contribute to the incidence of nonsyndromic clefts
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