PAX3 and Waardenburg syndrome type 1: In this study, among the five variants found in the PAX3 gene, three of them are loss of function (LoF) variants (p.Met299Ilefs*111, p.Val29Cysfs*81, p.Gly418Valfs*16) and therefore were considered as the molecular cause of the WS1 clinical diagnosis (Table 1).