A heterozygous mutation in the SAM domain of p63 underlies a mild form of ectodermal dysplasia

p63 is a major transcription factor which plays crucial roles in development of various epithelial tissues including skin [1]. In humans, p63 is encoded by TP63 gene and mutations in the TP63 gene are known to underlie at least five distinct ectodermal dysplasia (ED) syndromes: Rapp-Hodgkin syndrome (OMIM 129400), ankyloblepharon, ectodermal defects and cleft lip/palate (AEC) syndrome (OMIM 106260), ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome (OMIM 604292), acro-dermato-ungual-lacrimal-tooth syndrome (ADULT; OMIM 103285), and limb mammary syndrome (OMIM 603543) [1,2].