Related Experiment Video

Updated: Mar 3, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene

Amna Ahmed1, Badr Alsaleem1

  • 1Pediatric Gastroenterology and Hepatology Division, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.

Case Reports in Pediatrics
|April 22, 2017
PubMed

Insights

Juvenile polyposis syndrome (JPS), a rare genetic disorder, involves gastrointestinal polyps and increased cancer risk. This case identifies a new SMAD4 gene mutation in a child with JPS, aiding future management strategies.

Area of Science:

  • Genetics
  • Gastroenterology
  • Oncology

Background:

  • Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by multiple gastrointestinal juvenile polyps.
  • It significantly increases the risk of developing colorectal cancer.
  • Mutations in SMAD4 and BMPR1A are the most common genetic causes of JPS.

Observation:

  • An 8-year-old boy presented with recurrent rectal bleeding.
  • Examination revealed numerous polyps throughout his colon.
  • Histopathology confirmed the polyps were juvenile polyps.

Findings:

  • Genetic analysis identified a novel mutation in the SMAD4 gene (exon 5: p.Ser144Stop) in the patient.
  • This specific SMAD4 mutation has not been previously reported in the literature.
  • The findings confirm a genetic basis for the patient's JPS diagnosis.

Implications:

  • Genotypic diagnosis is crucial for effective management planning in JPS patients.
  • Identification of novel mutations expands our understanding of JPS pathogenesis.
  • This discovery may lead to more targeted therapeutic approaches for individuals with JPS.

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