What Is Waardenburg Syndrome?
4. Waardenburg Syndrome Type 1
Some cases of Waardenburg syndrome type 2 have been reported to be due to a mutation in the MITF gene found on chromosome band 3p14.1-p12.3. Like Waardenburg syndrome type 1, it can be inherited via the autosomal dominant pattern or due to spontaneous mutation.
There are also other cases of Waardenburg syndrome type 2 that are linked to mutations on 1p21-p13.3 while many other cases are unlinked to other unknown mutations. Type 2 Waardenburg syndrome can be further divided into 4 other subtypes. Patients with this type often have heterochromia of the irises (different colored eyes) and permanent hearing loss.
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