Peutz-Jeghers syndrome

Causes

What gene causes Peutz-Jeghers syndrome?

In the vast majority (more than 95%) of people with Peutz-Jeghers syndrome (PJS), the condition is caused by a disease causing change, or mutation, in a gene called STK11. Genes are sections of DNA that carry the instructions to make proteins, which are molecules that carry out specific jobs in the body. When there is a mutation in the instructions carried by a gene, the protein is not made properly and is unable to perform its job properly.

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What is the [i]STK11[/i] gene?

If I don't have a mutation in the [i]STK11[/i] gene, does this mean I don't have Peutz-Jeghers syndrome?

What is the [i]STK11[/i] gene?

The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way. When working properly, the STK11 gene makes a protein that helps regulate cell growth and the body's metabolism (the ability to convert food to energy). Mutations in the STK11 gene result in proteins that are not able to properly regulate cell growth, which causes polyps (abnormal growths of tissue) in the intestines, spots of dark skin freckling (mucocutaneous pigmentation), and an increased chance to develop cancer.

References
If I don't have a mutation in the [i]STK11[/i] gene, does this mean I don't have Peutz-Jeghers syndrome?

The diagnosis of Peutz-Jeghers syndrome is based on clinical findings. Identification of a genetic change in the STK11 gene by molecular genetic testing confirms the diagnosis and allows family members to have genetic testing as well. Rarely (less than 5%), people who have all of the signs and symptoms of PJS do not have a mutation in the STK11 gene. Although the genetic cause of their condition is not confirmed, they are still cared for medically as if they have PJS. Their family members should still have high risk screening and monitoring for cancer, but they are unable to have genetic testing for the mutation in the family.

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