Genetic Basis and Molecular Diagnosis of p63-Associated Ectodermal Dysplasia

Since its identification, the p63 protein, a paralog of the p53 tumor suppressor, has been shown to play a pivotal role as a master regulator of several ectodermal derivatives. In this chapter, we will describe the structure and function of the human TP63 gene and its corresponding p63 proteins. In addition, we will describe the molecular and phenotypic alterations that occur in p63-associated disorders and the differential genetic diagnosis of these syndromes. Finally, we will discuss the potential therapeutic strategies under development for the most severe manifestations.