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werner-syndrome

Werner Syndrome

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What is Werner syndrome?

Werner syndrome (also called progeria) is a hereditary condition associated with premature aging and an increased risk of cancer and other diseases. Signs of Werner syndrome usually develop in the teenage years. A person with Werner syndrome does not have the usual growth spurt typical of a teenager and is shorter on average. Signs of aging, including gray hair and hair loss, may appear in the 20s. Cataracts, type 2 diabetes, and osteoporosis (decrease in bone mineral density) may develop in the 30s. One of the most significant health problems faced by people with Werner syndrome is the early development of atherosclerosis, commonly known as hardening of the arteries, which can lead to a heart attack.

What causes Werner syndrome?

Werner syndrome is a genetic condition. This means that the risk of Werner syndrome can be passed from generation to generation in a family. Mutations (alterations) in the WRN gene are known to cause Werner syndrome. Research is ongoing to learn more about Werner syndrome.

How is Werner syndrome inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. Werner syndrome follows an autosomal recessive inheritance pattern, which means that a mutation must be present in both copies of the gene for a person to be affected. This means that both parents must pass on a gene mutation for a child to be affected. A person who has only one copy of the gene mutation is called a carrier. When both parents are carriers of a recessive gene mutation, there is a 25% chance that a child will inherit two mutations and be affected.

How common is Werner syndrome?

Werner syndrome is considered to be very rare. It is estimated that one in 200,000 people in the United States may have Werner syndrome. Werner syndrome is somewhat more common in Japan, where it is estimated that one in 30,000 people may have the condition.

How is Werner syndrome diagnosed?

Currently, the diagnosis of Werner syndrome is suspected if someone has several of the features that have been reported in people with this condition.

Common features of Werner syndrome (diagnosed after age 10):

Cataracts in both eyes (bilateral)

Skin changes associated with aging

Characteristic facial features, including wrinkling and loss of muscle tone

Short stature (height)

Early graying or thinning of the hair

Family history of Werner syndrome

Positive 24-hour urine hyaluronic acid test

Other features seen in Werner syndrome:

Type 2 diabetes

Decreased fertility

Osteoporosis

Cancer

Bone changes in the fingers and toes

Tissue changes

Early atherosclerosis (plaque build up in arteries)

Hoarse or high-pitched voice

Flat feet

Guidelines for the diagnosis of Werner syndrome have been proposed but may change over time as more is learned about this condition. Genetic testing for mutations in the WRN gene is available only as part of research studies (clinical trials). Mutations in the WRN gene are found in about 90% of people with Werner syndrome.

What are the estimated cancer risks associated with Werner syndrome?

The risk of cancer is increased in people who have Werner syndrome, but the specific risk of cancer is unknown. Types of cancers reported in people with Werner syndrome include thyroid cancer, melanoma, soft tissue sarcoma, and osteosarcoma (bone cancer).

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