Juvenile polyposis syndrome

Causes

What genes cause juvenile polyposis syndrome?

Mutations (pathogenic variants) in the genes BMPR1A and SMAD4 are both associated with juvenile polyposis syndrome (JPS). It is estimated that 28% of JPS is caused by changes in the BMPR1A gene, 27% of JPS is caused by changes in the SMAD4 gene, and unknown gene changes cause the rest. The pathogenic variants in the known genes disrupt the signals that cells send out into the body and interfere with the regulation of gene activity and cell proliferation. This means cells grow in disorganized manner and may create polyps.

Additional information about variants in the SMAD4 gene can be found at the University of Utah hosted Juvenile Polyposis Syndrome and SMAD4 program and database

References
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Can you have juvenile polyposis syndrome without a gene mutation?

What makes juvenile polyposis syndrome worse?

Can you have juvenile polyposis syndrome without a gene mutation?

Mutations in two genes, SMAD4 and BMPR1A, are known to cause JPS. A pathogenic (disease-causing) mutation is found in one of these genes in about 60% of individuals diagnosed with JPS. When a genetic change is found in a disease-causing gene, this is considered a molecular diagnosis. Almost all individuals with a molecular diagnosis will develop polyps. JPS can also be diagnosed based on clinical criteria. If an individual meets specific criteria, meaning has specific symptoms, medical history, and family medical history, then they are said to have JPS even if no genetic change is found. This is called a clinical diagnosis.

Mutations in SMAD4 often result in a more complex disorder known as juvenile polyposis syndrome with hereditary hemorrhagic telangiectasia JPS/HTT. HTT causes changes in the smaller blood vessels of the body resulting in bleeding into tissue, particularly the lungs, liver and brain. Individuals with pathogenic changes in SMAD4 will often have juvenile polyps as well as HTT symptoms, particularly more severe GI (gastrointestinal) bleeding .

References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)
What makes juvenile polyposis syndrome worse?

There is currently no data showing that there is anything you should avoid if you have juvenile polyposis syndrome.

References
  • Accessed on November 14, 2019: Joy Larsen Haidle, MS, CGC and James R Howe, MD; GeneReviews, Juvenile Polyposis Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK1469/)

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