Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
case_series · Level IV
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- Record sourced from PubMed, PMID 16685657.
- Also identified by PMC identifier 1474102.
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Abstract
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.
Medical subject headings
- Bone Morphogenetic Protein Receptors, Type I
- Chromosomes, Human, Pair 10
- Gene Deletion
- Genes, Tumor Suppressor
- Intestinal Polyposis
- PTEN Phosphohydrolase