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Human Genetics

, Volume 111, Issue 1, pp 108–111 | Cite as

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
Short Report

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.

Keywords

Germline Mutation Juvenile Polyposis Juvenile Polyposis Syndrome Gastric Polyposis Bone Morphogenic Protein Receptor 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2002

Authors and Affiliations

  • Waltraut Friedl
    • 1
  • Siegfried Uhlhaas
    • 1
  • Karsten Schulmann
    • 2
  • Manfred Stolte
    • 3
  • Steffan Loff
    • 4
  • Walter Back
    • 5
  • Elisabeth Mangold
    • 1
  • Martin Stern
    • 6
  • Hanns-Peter Knaebel
    • 7
  • Christian Sutter
    • 7
  • Ruthild G. Weber
    • 8
  • Steffen Pistorius
    • 9
  • Bettina Burger
    • 1
  • Peter Propping
    • 1
  1. 1.Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, GermanyGermany
  2. 2.Department of Medicine, Laboratory of Molecular Oncology, University of Bochum, Bochum, GermanyGermany
  3. 3.Department of Pathology, Bayreuth Hospital, Bayreuth, GermanyGermany
  4. 4.Department of Pediatric Surgery, Mannheim Clinical Center, University of Heidelberg, Heidelberg, GermanyGermany
  5. 5.Department of Pathology, Mannheim Clinical Center, University of Heidelberg, Heidelberg, GermanyGermany
  6. 6.Department of Pediatrics, University of Tübingen, Tübingen, GermanyGermany
  7. 7.Department of Surgery, University of Heidelberg, Heidelberg, GermanyGermany
  8. 8.Institute of Human Genetics, University of Heidelberg, Heidelberg, GermanyGermany
  9. 9.Department of Surgery, University Clinical Center Dresden, Dresden, GermanyGermany

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