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Key Gene in Cleft Lip and/or Palate Identified

January 8, 2010

Map of chromosomal region that contains FOXE1About six years ago, a team of NIDCR-supported scientists and their colleagues reported that they had genotyped 2,551 people from 388 extended families with a history of cleft lip and/or palate.  The study was noteworthy because it marked the first genome-wide linkage results for this common and developmentally complex birth defect.  Among the interesting leads to flow out of this work was that an undetermined gene in a novel region on the long arm of chromosome nine might be involved in the clefting process.  The challenge was to pinpoint its exact location.  In the December 15, 2009 issue of the journal Human Molecular Genetics, the scientists report that they now have the gene in tow.  It is called FOXE1, which belongs to a family of genes that encode transcription factors involved in pattern formation during embryonic development.  With further study, the researchers noted that the gene will provide valuable new insights into the process that leads to a cleft lip and/or palate.


  • FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate, Moreno LM et al., Human Molecular Genetics, 2009 Dec 15; 18 (24), 4879-4896


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This page last updated: February 26, 2014