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Arch Med Sci. 2014 Jun 29;10(3):570-7. doi: 10.5114/aoms.2014.43750. Epub 2014 Jun 27.

Juvenile polyposis syndrome.

Author information

1
Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland.
2
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland.

Abstract

Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to the occurrence of hamartomatous polyps in the gastrointestinal tract. Diagnosis of JPS is based on the occurrence of numerous colon and rectum polyps or any number of polyps with family history and, in the case of juvenile polyps, their occurrence also outside the large intestine. The JPS is caused by mutations in SMAD4 and BMPR1A. Products of the SMAD4 gene are involved in signal transduction in the transforming growth factor β pathway and BMPR1A protein is a receptor belonging to the family of transmembrane serine/threonine kinases. Both proteins are responsible for processes determining appropriate development of colonic mucosa. The JPS belongs to the group of hamartomatous polyposes. The hamartomatous polyposis syndromes constitute a group of diseases in which manifestations differ slightly and only molecular diagnostics gives the possibility of verifying the clinical diagnosis.

KEYWORDS:

BMPR1A gene; SMAD4 gene; juvenile polyposis; juvenile polyposis syndrome

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