Orofacial clefting: recent insights into a complex trait.
Orofacial clefts are common birth defects of multifactorial etiology. Several novel approaches have recently been applied to investigate the causes of clefts. These include examining Mendelian forms of clefting to identify genes that might also be implicated in isolated clefting, analyzing chromosomal rearrangements in which clefting is part of the resultant phenotype, studying animal models in which clefts arise either spontaneously or as a result of mutagenesis experiments, exploring how expression patterns correlate with gene function and examining the effects of gene-environment interactions. Together, these complementary strategies are providing researchers with new clues as to what mechanisms underlie orofacial clefting.
Jugessur
Astanand
A
Department of Paediatrics, University of Iowa, Iowa City, IA 52242, USA.
Murray
Jeffrey C
JC
D000818:Animals; D002869:Chromosome Aberrations; D002971:Cleft Lip / Q000196:embryology / Q000235:genetics* / Q000378:metabolism; D002972:Cleft Palate / Q000196:embryology / Q000235:genetics* / Q000378:metabolism; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D015291:Transforming Growth Factors / Q000235:genetics / Q000378:metabolism
D015291:Transforming Growth Factors