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International Registry of Werner Syndrome Frequently Asked Questions: |
| Who identified the condition? This condition was first described by Dr. Otto Werner at the University of Kiel, Germany, in 1904 when he was a medical student. He noticed features of skin tightness and thickening as well as cataracts in more than one child born in the same family.
What are the symptoms of Werner Syndrome? Many symptoms are things that happen normally to people as they age, so this has been called a premature aging syndrome. Individuals with this condition are often shorter than their family members. Most symptoms are not apparent until they are 20 years old. The skin changes described above along with bone thinning, hardening of the arteries, type II diabetes mellitus and cataracts are common. These individuals are also at higher risk for cancer. Most people with this condition die in their late forties. The most frequent causes of death are heart attacks from coronary artery atherosclerosis and cancer. What is the treatment? People with Werner Syndrome are treated for their various symptoms. Cataracts are removed, heart disease is treated, etc. There is no known cure for the condition. How do you get Werner Syndrome? This is a genetic condition caused by a change in the material that is passed on from parents to children. We have sets of instructions that tell our bodies how to function called genes. We get half of our genetic information from our mother and half from our father. Therefore, we normally have two copies of each gene. In order to have Werner Syndrome there is a change in both copies of the Werner Syndrome gene. Usually this means that each parent had one usual copy of the Werner Syndrome gene and one that is changed or mutated. These individuals would be called “carriers” of the condition. If this is the case, then the chance that any other child born to the couple would have Werner Syndrome is ¼.
What is the Werner Syndrome gene? We have now identified the specific gene that is changed in Werner Syndrome and know some of the ways that it normally functions in our bodies. The gene symbol is WRN (pronounced “vern”), and encodes a protein called the Werner protein. Since one function of the protein is as a DNA helicase (unwinds the DNA helix for replication or repair) it has also been called RECQL2. This gene is located on the short arm of chromosome 8 (8p12-11.2). For further questions or comments, please see
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