Wilson Disease

Wilson disease is an inherited disorder affecting copper metabolism, causing copper to build up in the body. The organs most affected are the liver, brain, and eyes. People with Wilson disease can develop liver disease, problems controlling movement, and psychiatric or behavioral problems. They will often a distinct eye anomaly, called Kayser-Fleischer rings, which are rings of copper in the cornea of the eye. These rings do not affect vision. Disease onset ranges from 3 to 50 years old. Lifelong treatment with copper chelating agents or zinc can reduce symptoms in some patients. With proper life-long surveillance and treatment, life expectancy is normal. Intelligence is not affected by Wilson Disease. Wilson disease is caused by pathogenic variants in the ATP7B gene.

Wilson disease is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

There are generally no signs or symptoms associated with being a carrier for Wilson disease. However, the risk to have a child affected with Wilson disesase is increased. Testing of reproductive partners is recommended for carriers of Wilson disease.

Wilson disease occurs in approximately 1 in 30,000 newborns worldwide, although it appears to occur more frequently in isolated populations, such as the Italian island community of Sardinia.

Genetics Home Reference: Wilson disease (http://ghr.nlm.nih.gov/)
Genetic Alliance: Wilson disease (http://www.diseaseinfosearch.org/)
Wilson Disease association: (http://www.wilsonsdisease.org)

OMIM [Wilson disease: 277900] (http://www.ncbi.nlm.nih.gov/omim)
Gene Reviews: Wilson disease (http://www.ncbi.nlm.nih.gov/books/NBK1116/)

• Full gene sequencing