The University of Pittsburgh School of Dental Medicine researchers said cleft palate and similar abnormalities are devastating conditions that cause tremendous social isolation, and are associated with decreased lifespan, a higher risk of cancer and increased susceptibility to psychiatric disorders.
Dr. Alexandre Vieira, an assistant professor, led the researchers who collected and evaluated genetic material from the saliva and blood of more than 500 individuals in families with two or more siblings affected with cleft lip or palate, and an additional 100 people from unrelated families whose samples were used for general population comparison data.
"We found a group of more than a dozen gene mutations that appear to be significantly associated with cleft lip and palate, as well as other dental abnormalities -- predominantly at the locations for ERBB2, CDH2 and IRF6," said Vieira. "Here we report, for the first time, an extensive candidate gene analysis for cleft susceptibility -- a crucial step that may allow for better estimates of recurrence risk in individual families."
The findings appear in the journal Genetics in Medicine.