What Is Waardenburg Syndrome?
3. History
Waardenburg syndrome type 1 is believed to be caused by mutations in the PAX3 gene found on chromosome band 2q35. Reports have included splice site, nonsense mutations, frame shifts, whole gene deletions, and more. In this subtype of Waardenburg syndrome, it can be inherited via an autosomal dominant pattern or due to a spontaneous mutation.
In some Chinese patients with type 1, two nonsense PAX3 mutations were identified where one is heterozygous for a previously reported mutation among the European population (R223X) while another is heterozygous for a novel nonsense mutation (S209X). Both of these mutations have led to the discontinuation of the PAX3 protein. SOX10, MITF, and PAX3 mutations have been reported in Chinese patients. Type 1 patients may have congenital hearing loss and almost always have widely spaced eyes.
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