Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

Am J Hum Genet. 2006 Jun;78(6):1066-74. doi: 10.1086/504301. Epub 2006 Apr 14.


We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Bone Morphogenetic Protein Receptors, Type I / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 10 / genetics*
  • Gene Deletion*
  • Genes, Tumor Suppressor*
  • Germ-Line Mutation
  • Humans
  • Infant
  • Intestinal Polyposis / genetics*
  • Male
  • Molecular Sequence Data
  • PTEN Phosphohydrolase / genetics*


  • BMPR1A protein, human
  • Bone Morphogenetic Protein Receptors, Type I
  • PTEN Phosphohydrolase
  • PTEN protein, human