Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2

M. Tassabehji, A. P. Read, V. E. Newton, M. Patton, P. Gruss, R. Harris, T. Strachan

    Research output: Contribution to journalArticlepeer-review


    Waardenburg syndrome (WS) is a combination of deafness and pigmentary disturbances, normally inherited as an autosomal dominant trait. The pathology involves neural crest derivatives, but WS is heterogeneous clinically and genetically. Some type I WS families show linkage with markers on distal 2q and in three cases the disease has been attributed to mutations in the PAX3 gene. PAX3 encodes a paired domain, a highly conserved octapeptide and probably also a paired-type homeodomain. Here we describe a further three PAX3 mutations which cause WS; one alters the octapeptide motif plus the presumed homeodomain; a second alters all three elements and the third alters the paired box alone. The latter occurs in a family with probable type 2 WS, a clinical variant usually considered not to be allelic with type 1 WS.
    Original languageEnglish
    Pages (from-to)26-30
    Number of pages4
    JournalNature Genetics
    Issue number1
    Publication statusPublished - 1993


    • Amino Acid Sequence
    • Base Sequence
    • DNA
    • genetics: DNA-Binding Proteins
    • Female
    • Humans
    • Male
    • Molecular Sequence Data
    • Mutation
    • Paired Box Transcription Factors
    • Pedigree
    • Polymerase Chain Reaction
    • Transcription Factors
    • genetics: Waardenburg's Syndrome


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