Researchers identify gene that promotes cleft lip

NEW YORK -- Scientists say they've identified a flawed gene that can raise the risk that a baby will be born with cleft lip, sometimes along with cleft palate.

If scientists can devise some kind of preventive treatment, the discovery could one day help identify couples at risk of having an affected child, who could then get that treatment, a researcher said.

The genetic defect doesn't cause the birth defect by itself, but if it's combined with other genetic factors and unknown environmental ones the abnormality may appear, said researcher Dr. Richard Spritz of the University of Colorado Health Sciences Center in Denver.

He and colleagues found that a particular mutation of the "PVRL1" gene appeared to promote the disease in a population on the central north coast of Venezuela. The researchers have begun to examine whether other mutations of the gene promote the abnormality in U.S. residents, and initial results appear promising, Spritz said.

The work from Venezuela is published online by the journal Nature Genetics. Researchers found that 14 of 243 unrelated people with the birth defect carried the mutation, compared to only one of 245 unaffected people. That suggests the mutation promotes the disease.