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.
Continue to Peutz-Jeghers Syndrome Anatomy
- Brosens LA, van Hattem WA, Jansen M, de Leng WW, Giardiello FM, Offerhaus GJ. Gastrointestinal polyposis syndromes. Curr Mol Med. 2007 Feb;7(1):29-46. 
- Friedman S, Odze RD, Farraye FA. Management of neoplastic polyps in inflammatory bowel disease. Inflamm Bowel Dis. 2003 Jul;9(4):260-6. 
- Merg A, Howe JR. Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129(1):44-55. 
- Schulmann K, Hollerbach S, Kraus K, Willert J, Vogel T, Moslein G, Pox C, Reiser M, Reinacher-Schick A, Schmiegel W. Feasibility and diagnostic utility of video capsule endoscopy for the detection of small bowel polyps in patients with hereditary polyposis syndromes. Am J Gastroenterol. 2005 Jan;100(1):27-37. 
- Togashi K, Konishi F, Ishizuka T, Sato T, Senba S, Kanazawa K. Efficacy of magnifying endoscopy in the differential diagnosis of neoplastic and non-neoplastic polyps of the large bowel. Dis Colon Rectum. 1999 Dec;42(12):1602-8.