Mutations in the gene which encodes for MITF (Mitf) are characterized by loss of pigmenta-tion, micropthalmia, blindness, and deafness.
MITF gegnir lykilhlutverki í þroska melanín-framleiðandi fruma en stökkbreytingar í MITF geninu (Mitf) valda litfrumu-skorti, smáum augum, heyrnarleysi, og blindu.