TP63 mutation mapping information in TP63 mutation-associated syndromes

The transcription factor tumour protein 63, encoded by the TP63 gene, is a regulator of epidermal development. Heterozygous mutations in TP63 cause a variety of human ectodermal dysplasia disorders, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome, split hand/foot malformation 4, Rapp-Hodgkin syndrome, limb mammary syndrome, and acro-dermato-ungual-lacrimal-tooth syndrome. There are genotype-phenotype correlations in some of these syndromes, and the number of cases with overlapping symptoms has been increasing. The phenotypic spectrum and expressivity of TP63 mutation-associated syndromes complicate its clinical diagnosis and classification. Here, we present an updated review of TP63 mutation mapping information, together with a comprehensive overview of TP63 mutation-associated syndromes. We show that several cases with the same mutation have been previously diagnosed with different syndromes. This study will be useful for the diagnosis and classification of TP63 mutation-associated syndromes.