Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers

Hum Genet. 2002 Jul;111(1):108-11. doi: 10.1007/s00439-002-0748-9. Epub 2002 Jun 13.


Juvenile polyposis syndrome (JPS) is an autosomal dominant predisposition to multiple juvenile polyps in the gastrointestinal tract. Germline mutations in the MADH4 or BMPR1A genes have been found to be causative of the disease in a subset of JPS patients. So far, no genotype-phenotype correlation has been reported. We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). A remarkable prevalence of massive gastric polyposis was observed in patients with MADH4 mutations when compared with patients with BMPR1A mutations or without identified mutations. This is the first genotype-phenotype correlation observed in JPS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Bone Morphogenetic Protein Receptors, Type I
  • Child
  • Child, Preschool
  • DNA / blood
  • DNA / metabolism*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gastrectomy
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polyps / genetics*
  • Polyps / pathology
  • Polyps / surgery
  • Protein Serine-Threonine Kinases*
  • Receptors, Growth Factor*
  • Receptors, Transforming Growth Factor beta / genetics*
  • Smad4 Protein
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • Stomach Neoplasms / surgery
  • Trans-Activators / genetics*


  • DNA-Binding Proteins
  • Receptors, Growth Factor
  • Receptors, Transforming Growth Factor beta
  • SMAD4 protein, human
  • Smad4 Protein
  • Trans-Activators
  • DNA
  • Protein Serine-Threonine Kinases
  • BMPR1A protein, human
  • Bone Morphogenetic Protein Receptors, Type I