Abstract: 【Abstract】 Objective To detect causative gene mutations in 1 patient with ADULT syndrome mainly presenting with ectodermal dysplasia. Methods Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples obtained from the proband and his parents. Exome sequencing was performed in the proband by using targeted panels for hereditary skin diseases to determine mutation sites, and then the candidate mutation sites were verified by Sanger sequencing in the family members. Results The 22-year-old male patient presented with sparse and thin hair, scattered facial freckles, missing permanent teeth, cloudy corneas, palmoplantar erythema and keratosis, nail/toenail dystrophy, and nipple dysplasia. Genetic testing of the peripheral blood genomic DNA of the proband revealed a heterozygous mutation （c.1040G>T） in exon 8 of the TP63 gene, resulting in an amino acid change at position 347 （p.C347F）. The mutation was not detected in his father or mother with normal phenotypes, suggesting the cosegregation of the gene mutation with the disease phenotype in the family. Conclusion The de novo heterozygous missense mutation in the TP63 gene may be the causative mutation in the proband, and combined with clinical manifestations, the proband was diagnosed with ADULT syndrome without finger/toe deformities.

Key words: Ectodermal dysplasia, TP63 mutation, ADULT syndrome, Incomplete penetrance