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

Waltraut Friedl; Siegfried Uhlhaas; Karsten Schulmann; Manfred Stolte; Steffan Loff; Walter Back; Elisabeth Mangold; Martin Stern; Hanns-Peter Knaebel; Christian Sutter; Ruthild G Weber; Steffen Pistorius; Bettina Burger; Peter Propping

doi:10.1007/s00439-002-0748-9

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.

Authors

Waltraut Friedl¹, Siegfried Uhlhaas, Karsten Schulmann, Manfred Stolte, Steffan Loff, Walter Back, Elisabeth Mangold, Martin Stern, Hanns-Peter Knaebel, Christian Sutter, Ruthild G Weber, Steffen Pistorius, Bettina Burger, Peter Propping

Affiliation

¹ Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Germany. waltraut.friedl@ukb.uni-bonn.de

PMID: 12136244
DOI: 10.1007/s00439-002-0748-9

Abstract

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*

Substances

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