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A novel MITF variant in a white American Standardbred foal.

Background: Variants in the MITF gene may cause white or white-spotted phenotypes, which may sometimes occur simultaneously with deafness, eye disorders and other neurological dysfunctions. To the authors’ knowledge, three MITF variants, termed SW1, SW3 and macchiato, have been described in horses, resulting in a variable extent of coat colour depigmentation, ranging from white spotted (splashed white) to completely white phenotypes. Related depigmentation phenotypes were reported to be caused by variants in the EDNRB, KIT and PAX3 genes. Non-coding regulatory variants at the MITF locus were postulated to be involved in the determination of the extent of white markings in horses.