Cleft palate has been linked to dozens of genes. During their investigation of one of these genes, researchers at Washington University School of Medicine in St. Louis were surprised to find that cleft palate occurs both when the gene is more active and when it is less active than normal.
They say the finding suggests this gene and processes closely associated with it are central to palate development and could become important targets for investigators seeking nonsurgical treatments to prevent cleft palate before birth. Their report will appear in an upcoming issue of the Proceedings of the National Academy of Sciences.
"Palate formation in the embryo is a complex process, and many things can go wrong," says senior author David M. Ornitz, M.D., Ph.D., Alumni Endowed Professor of Developmental Biology. "A cleft palate is often diagnosed late in pregnancy and treated surgically after birth. But if we understood the genetic causes of this common birth defect, we might be able to diagnose it much earlier. That would potentially allow intervention with prenatal surgery or with drugs or other agents designed to counteract the genetic abnormalities."
Clefts of the lip and palate affect about one in 700 newborns worldwide. Children with cleft lip and palate can have difficulty feeding as infants and can have speech, dental and hearing problems as they grow older. Depending on severity, surgical repair can require several operations over many years, and the estimated average lifetime cost of treatment in the United States is about $100,000 per patient.
"We believe the more information we have on the causes of cleft palate, the better hope we have for possibly preventing and more effectively treating the condition," says lead author Alison K. Snyder-Warwick, M.D., a plastic surgery resident at Barnes-Jewish Hospital.
Although some cases of cleft lip and palate are linked to environmental factors such as maternal smok
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Washington University in St. Louis