MITF and Waardenburg syndrome type 2A: Waardenburg syndrome 2A (WS2A) [MIM:193510], Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) [MIM:103470], Tietz syndrome (TIETZS) [MIM:103500], Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456] are all caused by mutations in MITF [UniProt: O75030].