New genetic causes of facial clefts identified
Source: Reuters
By Will Dunham WASHINGTON, March 5 (Reuters) - Researchers studying the causes of facial clefts have identified a handful of new genetic mutations linked to these birth defects in a step that might help lead to a test to predict a family's risk. In a study published on Monday, researchers looked at DNA from 184 people from Iowa and the Philippines who had the common form of cleft lip and cleft palate, and compared it to the DNA of people without the condition. They found seven mutations related to genes associated with fetal facial development. The researchers said these mutations may account for 5 percent of cleft lip and palate cases that are not associated with other syndromes or birth defects. The study, published in the Proceedings of the National Academy of Sciences, adds to the understanding of the causes of these birth defects and might help doctors predict a family's risk of having children with the condition, the researchers said. "It's a complex disease, so there are both genetic and environmental factors that are believed to play a role," University of Iowa researcher Bridget Riley, the study's lead author, said in a telephone interview. Cleft lip and cleft palate are birth defects affecting the upper lip and the roof of the mouth, and may be manifested as anything from a small notch in the lip to a complete groove running into the roof of the mouth and nose. These birth defects occur when tissues that form the lip and palate do not join as they should early in a fetus's development. These facial clefts, seen in about one of every 700 live births worldwide, are thought to have multiple causes. They can appear in conjunction with other syndromes or birth defects or on their own -- so-called non-syndromic facial clefts. They can necessitate expensive medical treatment and are associated with shorter life span. "There's no diagnostic test right now for non-syndromic cleft lip and palate," Riley said. In January, researchers at the U.S. National Institutes of Health wrote in the British Medical Journal that women who take folic acid supplements early during their pregnancy can greatly lower their baby's risk of being born with a facial cleft. Folic acid, a B vitamin, already was known to cut the risk of neural tube defects such as spina bifida. Folic acid is found in leafy vegetables, citrus fruits, beans and whole grains, can also be taken as a vitamin supplement, and is added to certain fortified foods.
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