MITF and Waardenburg syndrome: MITF haploinsufficiency can lead to Waardenburg syndrome type 2 (Hodgkinson et al., 1998) Mutations in the MITF gene cause Waardenburg syndrome (S. Kumar and Rao, 2012) and Tietz syndrome (S. D. Smith et al., 2000), Both disorders are accompanied by symptoms such as inadequate melanocyte development, insufficient pigmentation of the skin and hair, and deafness.