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GENATLAS PHENOTYPE
last update : 24-06-2011
Symbol JPS3
Location 10q23.2
Name juvenile polyposis syndrome
Corresponding gene BMPR1A
Main clinical features
  • cancer predisposition syndrome
  • hamartomatous polyps in the gastrointestinal tract, with a risk for colon cancer
  • phenotypic overlap with other hamartomatous polyposis syndromes
  • juvenile polyps are characterized by a marked increase of the stromal cell compartment, but an epithelial phenotype has also been reported. (PMID: 21412070))
    • Genetic determination autosomal dominant
    Function/system disorder digestive tract/gastrointestinal
    Type malignancy
    Gene product
    Name member of the transforming growth-factor beta-receptor superfamily, upstream from the SMAD pathway)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein high frequency of frameshift and nonsense mutations
    other      
    deletion     large deletions
    Remark(s)
  • germline mutations identified in 30 percent of cases, with 11.4% in BMPR1A and 18.6% in SMAD4
  • promoter mutations cause juvenile polyposis (JP), and may be responsible for up to 10p100 of genetically undefined JP cases (PMID: 21412070))