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New Gene Test May Predict Cleft Lip or Palate

Genetic Pattern Linked to About 12% of the Common Birth Defects

Genetic Pattern Linked to Cleft Lip and Palate continued...

Researchers isolated a distinct sequence variation in and around the gene IRF6 that correlated with a higher chance that a second child was born with a cleft lip or palate. The gene IRF6 is involved in disorders of the lips, palate, skin, and genitalia.

Based on their analysis, researcher estimate that the risk of parents with this variation having a second child with isolated cleft lip and palate is about 12%.

"For a complex trait like cleft lip and palate, this is a nice step forward because there may be dozens of genes that contribute to the condition," says Murray.

Closer to Understanding Cleft Birth Defects

In an editorial that accompanies the study, Aravinda Chakravarti, PhD, of the Johns Hopkins School of Medicine, says these findings bring researchers a step closer to understanding the most common form of cleft lip and palate.

Chakravarti says the findings obviously have immediate implications for the genetic counseling of families with children who have cleft lip or palate, but they also have greater implications for future research.

"These families would require careful genetic counseling with regard to diagnosis, patient care, and treatment options," writes Chakravarti. "However, it is unlikely that families would react very differently to a recurrence of 3 to 5 percent than to a risk of 9 percent."

"The most important implication of this study is that it provides a promising lead for identifying other genes linked to cleft lip or palate and elucidating the mechanisms of environmental exposure," writes Chakravarti.

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