Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Mayada Tassabehji, Valerie E. Newton, Andrew P. Read

    Research output: Contribution to journalArticlepeer-review


    Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.
    Original languageEnglish
    Pages (from-to)251-255
    Number of pages4
    JournalNature Genetics
    Issue number3
    Publication statusPublished - Nov 1994


    • Amino Acid Sequence
    • Animals
    • Base Sequence
    • Chromosomes, Human, Pair 3
    • genetics: DNA-Binding Proteins
    • Disease Models, Animal
    • genetics: Eye Color
    • Genes
    • genetics: Hair Color
    • genetics: Haplotypes
    • genetics: Hearing Loss, Sensorineural
    • Helix-Loop-Helix Motifs
    • Humans
    • Leucine Zippers
    • Mice
    • Mice, Mutant Strains
    • Microphthalmia-Associated Transcription Factor
    • genetics: Microphthalmos
    • Molecular Sequence Data
    • Pedigree
    • RNA Splicing
    • Transcription Factors
    • genetics: Transcription, Genetic
    • genetics: Waardenburg's Syndrome


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