Genetic Disorder Project

Werner's Syndrome


Werner's Syndrome is estimated to affect about 1 in 200,000 people in the U.S. It occurs most often in Japan, affecting 1 in 20,000 to 1 in 40,000. Robin Williams had this disease in the movie "Jack"

Frequency of Werner's Syndrome

About 0.3/10^5 newborns in Japan get this disease.

Werner's Syndrome & Biology

The symptoms don't usually appear until the person is around 20 years old. The skin changes along with bone thinning and hardening of the arteries. The people with this disease are more of a risk to cancer and they usually die in their late forties. The protein that affects this disease is DNA Helicase.

Type of Mutation & Type of Inheritance

The mutation type involved in the disease is in the WRN gene. It plays a critical role in repairing damaged DNA, the Werner protein also functions as an enzyme exonuclease. Werner syndrome is inherited in an autosomal recessive pattern, meaning that both copies of the WRN gene in each cell have mutations.


Pedigree of Werner's Syndrome

Diagnosis Techniques

Usually diagnosed before ten years old.

  • Cataracts in both eyes
  • Skin changes significantly with aging
  • Characteristic facial features, like loss of muscle tone and wrinkling
  • Short stature (height)
  • Early graying or thinning of the hair
  • Family history of Werner's Syndrome
  • Positive 24-hour urine hyaluronic acid test

There isn't a cure for this disease yet. Ulcers caused by Werner's Syndrome can be treated to an extent.

Works Cited

  • "Werner Syndrome." Cancer.Net. N.p., 25 June 2012. Web. 20 Mar. 2016.
  • "Werner Syndrome." Werner Syndrome. N.p., n.d. Web. 04 Mar. 2016.