A team of international researchers have identified a gene that plays a major role in cleft lip and cleft palate. The study, published in the journal Human Molecular Genetics, was partially funded by the American Association of Orthodontists Foundation (AAOF), the charitable arm of the AAO.
Research had previously identified a segment of the human genome, called chromosome 9, as the location of an important genetic cause of cleft lip and cleft palate. Through further research and analysis of DNA from affected families, the researchers have now identified a single gene on chromosome 9 as a root cause of these common birth defects. The gene, known as FOXE1, appears to contribute to cleft lip with or without cleft palate, and to isolated cleft palate. These two forms of clefting previously were thought to arise from different genetic abnormalities.
Although researchers do not yet know how FOXE1 abnormalities cause clefting, the gene might be part of a new pathway involved in lip and palate formation. Understanding what the mutation does to the gene and which biological pathways are affected could potentially lead to new therapeutic approaches.
"The AAOF is pleased to have helped sponsor this ground-breaking research. Its findings have the potential to lead to the prevention or improved treatment of cleft lip and cleft palate, which affects thousands of infants annually all over the world," said Stephen E. Hershey, DDS, MA, MS, president of the AAOF.