Stephen J. Schueler, M.D.

Overview Incidence Symptoms Underlying Cause Anatomy Genetics

Peutz-Jeghers Syndrome Underlying Cause

Most of the people with Peutz-Jeghers syndrome have a mutation in the STK11 gene. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in one copy of this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.

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Last Updated: Jun 19, 2008 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Peutz-Jeghers Syndrome References
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