MITF mutations have been identified in patients with hypopigmentation syndromes Waardenburg syndrome type 2A (WS2 A) and Tietz syndrome (TS) as well as in patients with melanoma.
Stökkbreytingar hafa fundist í MITF geninu í sjúklingum með Waardenburg heilkenni af gerð 2A (WS2 A) og með Tietz heilkennið (TS) en einnig í sortuæxlum.