Orofacial clefting: recent insights into a complex trait

Curr Opin Genet Dev. 2005 Jun;15(3):270-8. doi: 10.1016/j.gde.2005.03.003.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Chromosome Aberrations
  • Cleft Lip / embryology
  • Cleft Lip / genetics*
  • Cleft Lip / metabolism
  • Cleft Palate / embryology
  • Cleft Palate / genetics*
  • Cleft Palate / metabolism
  • Gene Expression Regulation / genetics
  • Humans
  • Transforming Growth Factors / genetics
  • Transforming Growth Factors / metabolism


  • Transforming Growth Factors