can come from new mutations in the gene even without a family history of the
disorder. Two parents had single mutations in MITF or PAX3 and had a double
heterozygous offspring. The mutated offspring had affected genes MITF and PAX3 and
an increase of improper pigmentation symptoms. Double heterozygous mutations of
MITF is one case that can cause the extreme phenotypes of the syndrome. This
protein is one of the six affected proteins that cause Waardenburg Syndrome.
MITF is a basic leucine zipper
protein involved in several developmental processes. It is particularly
important for the development of many different skin, hair, and eye pigments. PAX3
is an affected protein that helps develop the brain and from skeletal muscle.
Another important affected protein is SOX10. SOX10, found in sensory nerves, modulates
DNA-binding and contributes to developing the peripheral nervous system in
cells of the neural crest. All of these proteins work together to ensure proper
pigmentation by making melanocyte. Any person that has Waardenburg Syndrome
should not be worried, their life span will not be any shorter than the average
person’s. Even though there is not a cure for the disorder, most
symptoms do not need any necessary treatment. If hearing loss is one of the
symptoms, hearing aids or cochlear implants can provide help. If there are
bowel nerve problems, constipation, surgery may be needed to remove the portion
affected by the condition helping digestion. White patches of skin, known as
hypopigmentation, can also be blended in with the dominant skin color with a
various topical ointments.
Unfortunately, Waardenburg Syndrome
is hereditary meaning it can be passed from one or both parents to their
offspring. Rarely does the mutation that causes Waardenburg syndrome occur
spontaneously but is usually passed down through genes. If one copy of the
Waardenburg Syndrome gene is present, there probably are not any obvious signs
of having the syndrome. People with this gene have a chance of one out of every
two to pass the gene on to their offspring.