What Is Waardenburg Syndrome?
2. Gene Mutations
In Waardenburg syndrome, there are mutations in various genes to cause different types of the syndrome. There are 6 genes that are involved in this condition: PAX3 gene that encodes the paired box 3 transcription factor, EDN# gene (endothelin 3), MITF gene (microphthalmia associated transcription factor), SNAI2 (snail homolog 2), SOX10 (encodes the Sry bOX10 transcription factor), and EDNRB (endothelin receptor type B).
Waardenburg syndrome generally has an autosomal dominant pattern where only one copy of the abnormal gene is required to cause disease. This can be seen in types 1 and 3 while types 2 and 4 have an autosomal recessive type of inheritance pattern. A small portion of cases are due to new genetic mutations.
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