PAX3 and Waardenburg syndrome type 1: It is noteworthy that the PAX3 mutation identified in this study (c.788dup, p.Gln264Thrfs) is a frameshift variant, whereas the literature also reports a missense mutation at the same nucleotide position, PAX3 (c.788T>A, p.Val263Gly), both of which are associated with the typical WS1 phenotype (Hazan et al., 2013).