An international team of researchers have found a genetic variation that is likely to contribute to one in five cases of isolated cleft lip, according to the latest issue of Nature Genetics.
It is the first time a genetic variant has been associated with cleft lip alone, rather than both cleft lip and palate. The findings were published in the journal Nature Genetics on Oct. 5.
In 2004, an international team identified the gene IRF6 as a contributor to about 12 percent of cases of the common form of cleft lip and palate. "Now we found that a common variant in the IRF6 gene severely disrupts the ability of AP2 (protein) to bind to it. This in turn disrupts proper expression of the IRF6 gene," said Fedik Rahimov, the lead author from University of Iowa, in the Midwest of the United States.
The team then studied large DNA collections on cleft lip and palate, and found that among nearly 3,000 families, those with cleft lip only were far more likely to have the genetic variant.
"We always thought that cleft lip alone and cleft lip with cleft palate were the same disease. Now we see a difference and will analyze patients with cleft lip separately from those who have both cleft lip and palate," Rahimov said.
The study provides insights on a previously unknown genetic mechanism and could eventually help with diagnosis, prevention and treatment of cleft lip, which affects more than five million people worldwide.
Source: Xinhua
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