About Werner Syndrome
The New York Center for Rare Diseases supports the mission and guidelines of the Genetic and Rare Diseases Information Center (GARD). The following information is provided by the NIH.
Summary
Werner syndrome is a condition that causes premature aging. People with this syndrome will develop and grow normally until puberty. At puberty, growth stops and adults with Werner syndrome are typically shorter than average. By the early 20s-30s, people with this syndrome develop conditions usually associated with more advanced ages. In addition, people with Werner syndrome have an increased risk of developing cancer, especially thyroid and skin cancers. Heart attack and cancer are the most common causes of death. Werner syndrome is caused by genetic changes in the WRN gene and is inherited in an autosomal recessive manner. This condition is diagnosed based on the symptoms and genetic testing.
Causes
What Causes This Disease?
Genetic Mutations: Werner syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these.
If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team.
Known Genetic Mutations: Werner syndrome is caused by genetic mutations in the following known gene(s):
WRN
Given these known genetic mutation(s), you may want to ask your health care team if genetic testing is right for you. Genetic tests are laboratory tests that use samples of blood, saliva, or other tissues to help identify changes in genes, chromosomes, or proteins. Genetic testing can help confirm or rule out a suspected genetic disease, or can provide other useful information to your health care team.
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD’s current data, this disease can be inherited in the following pattern(s):
Autosomal Recessive: Autosomal means the gene involved is located on one of the numbered chromosomes. Recessive means that a child must inherit two copies of the mutated gene, one from each biological parent, to be affected by the disease. A carrier is a person who only has one copy of the genetic mutation. A carrier usually doesn't show any symptoms of the disease.
If both biological parents are carriers, there is a 25% chance their child inherits both copies of the mutated gene and is affected by the disease. Additionally, there is a 50% chance their child inherits only one copy of the mutated gene and is a carrier.