Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes
2006
We describe four unrelated children who were referred to two tertiary referral
medical geneticsunits between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a
germlinedeletion encompassing two
contiguousgenes,
PTENand
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.
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