Mutations in the genes encoding a family of receptor tyrosine kinases, the platelet-derived growth factor receptor (PDGFR), cause non-syndromic cleft lip and palate as well as syndromes characterized by facial dysmorphism.
Defects in craniofacial development, including cleft lip and palate, comprise one of the most prevalent birth defects in humans. By identifying the mechanisms by which PDGFRs regulate gene expression and cell activity, our findings have the potential to provide new therapeutic directions for the treatment of human craniofacial birth defects.
The Fantauzzo laboratory investigates the mechanism and function of the PDGFR family in the development of the mouse craniofacial skeleton.