MITF and Waardenburg syndrome type 2: In humans, germinal MiTF mutations have been mainly identified in the heterozygous state [137], and they are most frequently loss-of-function mutations that result in haploinsufficiency leading to pathologies associated with pigment abnormalities and congenital hearing loss, including Waardenburg syndrome type II (WS2) and Tietz albinism-deafness syndrome (TADS) [170, 177].