Waardenburg Syndrome Due to PAX3 Mutations

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Waardenburg Syndrome Due to PAX3 Mutations

Waardenburg Syndrome was discovered in 1951 by a Dutch opthamologist, Petrus Johannes Waardenburg. He observed that often people with two different colored eyes also had hearing problems. This disease is now believed to be due to a genetic mutation that is inherited in an autosomal-dominant pattern, with parents with the disease having a fifty-percent chance of passing it on to their children. Today, almost fifty years after Waardenburg made his initial observations, much has been learned about this rare disease.

There are many characteristic signs that indicate someone has Waardenburg Syndrome, or WS. The variety and severity of characteristics that these people display, however, is extremely vast. First, it affects the hearing. Over two percent of deafness at birth is due to Waardenburg Syndrome (Morell et al, 1997). However, there is a vast range of hearing impairments. Some people lose their hearing in both ears, others in just one, and still others have just a slight loss or even normal hearing. The second way it affects the body is through pigment disorders. Some people with this disease have two different colored eyes. One is usually brown and the other blue, or sometimes brown and blue splotches are mixed in the same eye. A white forelock of hair, premature graying and white patches of skin are other pigment abnormalities. The third characteristic is lateral displacement of the inner canthi, or "dystopia canthorum." This means that there is a wide space between the eyes. Connected eyebrows, a low hairline, and a broad nasal root are other signs of this disorder. Due to the wide variety of symptoms and the varying severity people with WS display, i...

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...Grundfast, K.M., et al (1995). Further Elucidation of the Genomic Structure of PAX3, and Identification of Two Different Point Mutations within the PAX3 Homeobox That Cause Waardenburg Syndrome Type 1 in Two Families. American Journal of Human Genetics, 56 (1): 75-83.

Morell, R., Carey, M., Lalwani, A.K, et al (1997). Three Mutations in the Paired Homeodomain of PAX3 That Cause Waardenburg Syndrome Type 1. Human Heredity, 47 (1), 38-41.

Reynolds, J.E., Marazita, M.L., Meyer, J.M., Steven, C.A., et al, (1996). Major-Locus Contributions to Variabililty of the Craniofacial Feature Dystopia Canthorum in Waardenburg Syndrome. American Journal of Human Genetics, 58 (2): 384-92.

Smith, S., Kolodzicj, P., Olney, A.H. (1998). Waardenburg Syndrome. ENT: Ear, Nose & Throat Journal, 77 (1), 257-59.

Waardenburg Syndrome Brochure (1993) Vol. 91 (3260): 1-7.

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