Waardenburg syndrome

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Subtypes

  1. Waardenburg syndrome type I (WS type I, WS1) caused by mutation in the PAX3 gene on 2q35 and with the wide nasal bridge
  2. Waardenburg syndrome type II (WS type II, WS2)
    1. WS2A caused by mutation in microphthalmia-associated transcription factor (MITF) gene at 3p14.1-p12.3
    2. WS2B by mutation at 1p21-p13.3 and usually autosomal dominant.
    3. WS2C by mutation at 8p23
    4. WS2D caused by mutation in the SNAI2 gene at 8q11, which codes for a zinc finger transcription factor.
  3. Klein-Waardenburg syndrome (WS type III, WS3) due to deletion of PAX3 gene
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