An international team of scientists led by Newcastle University in the UK and the University of Bonn in Germany has linked the gene GREM1 (Gremlin1) with the formation of cleft lip and palate. The study published on March 11 in PLoS Genetics explains that increased activity of the gene increases the risk for the birth defect.

They studied the facial development of mice and how gene alterations impact the lip and palate. They found that the gene’s increased activity rather than its malfunction caused the birth defect. The study has reported that it is the second gene that has been associated with cleft lip and palate.

Senior author Heiko Peters, from Newcastle University’s Institute of Genetic Medicine, says that their new study provides insight that will aid medical experts in understanding this defect and create prevention measures. They add that environmental factors such as smoking or taking medicines during pregnancy can also cause the condition but more studies are needed to accurately explain how genes and these factors interact and cause this defect.

Child with cleft lip and palate. Photo from Wikipedia/James Heilman, MD

Child with cleft lip and palate. Photo from Wikipedia/James Heilman, MD

Patients with cleft lip and palate usually suffer from dental and speech problems, as well as severe ear infections and even hearing loss. Medical intervention needs a collaboration between EENTs, orthodontists and speech therapists.

“Studies such as this contribute vital pieces of information that enable clinicians to provide patients with answers that are relevant to them and their family, not just general statistics,” says Laura Yates, a consultant in clinical genetics at Newcastle University “Our understanding of how genetic factors in both mother and foetus, and external or environmental influences impact on foetal development in the womb, is far from complete.”

“This study takes us one step closer to being able to identify genetic changes that increase the chance of a particular form of cleft lip and palate re-occurring in a family,” Yates adds. “Therefore to studying what can be done to reduce the chance of this happening in individuals who have this genetic change.”