Better Understanding of Genetics May Lead to In Utero Treatment of Cleft Palate

The study looked at FGFR2 in mice with Crouzon Syndrome, which is caused by a mutation in the gene that often results in cleft palate. In a typically developing embryo, growth signals go and off in a specific pattern to ensure healthy growth of the fetus. In mice with a mutated FGFR2, the growth signals remain permanently on. This results in the initial increased growth of the cells that form the palate and then a decrease in their growth just before the palate is formed. This decrease causes the palatal shelves from forming correctly. The overstimulation of the signaling pathway and the resulting malformation of the palate provide clues on how the FGF signaling pathway may be targeted in the future to encourage healthy growth of the palate.

One of the study authors, David M. Ornitz, MD, PhD, Alumni Endowed Professor of Developmental Biology, noted that this discovery could lead to the possibility of regulating FGFR2 function with pharmaceuticals in utero, ultimately changing the development of the palate from cleft to normal before birth.