New Gene Test May Predict Cleft Lip or Palate
Genetic Pattern Linked to About 12% of the Common Birth Defects
WebMD News Archive
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
"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
"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