The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child.
The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child.
The goal of this study was to assess the effect of maternal genotype of functional polymorphisms in two genes involved in phenytoin metabolism, CYP2C9 (R144C, I395L) and EPHX1 (Y113H, H139R), on the presence of major craniofacial abnormalities (CFAs) in the child.
The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome.