Zhao K, et al. - Authors sought to identify potentially pathogenic mutations for tooth agenesis by whole-exome sequencing. They included 10 Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis. Knowledge on tooth agenesis spectrum was expanded by the study by identifying novel variants. In families with ectodermal dysplasia, they identfied 1 novel mutation and 3 reported mutations in EDA. They considered the Wnt10A c.521T>C mutation and the EVC2 c.1472C>T mutation as pathogenic for affecting highly conserved amino acids, co-segregated with phenotype and predicted to be disease-causing by SIFT and PolyPhen2. Furthermore, they also detected several reported mutations in PAX9, Wnt10A, and FGFR3.