TP63 mutation mapping information in TP63 mutation-associated syndromes

• DOI: 10.1016/j.adoms.2022.100253
• Publication Date: 2022-01-07T08:18:24Z
• Authors: Yosuke Harazono; Kei-ichi Morita; Erina Tonouchi; Eri Anzai; Namiaki Takahara; Tomohiro Kohmoto; Issei Imoto; Tetsuya Yoda
• Keywords: Ectrodactyly

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