The eight variants found in the MITF gene include six LoF (p.Glu87Argfs*19, p.Arg255*, p.Arg203Alafs*10, p.Gln204*, exon 5–6 deletion, exon 8 deletion) and can be considered as the molecular cause of WS2 in those patients. This evidence concerns the gene MITF and Waardenburg syndrome type 2.