Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

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...

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Bibliographic Details
Published in:American journal of human genetics 2006-06, Vol.78 (6), p.1066-1074
Main Authors: Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Bone Morphogenetic Protein Receptors, Type I - genetics
Child, Preschool
Children & youth
Chromosomes
Chromosomes, Human, Pair 10 - genetics
Colorectal cancer
Diarrhea
Gene Deletion
General aspects. Genetic counseling
Genes
Genes, Tumor Suppressor
Germ-Line Mutation
Humans
Infant
Intestinal Polyposis - genetics
Male
Medical genetics
Medical sciences
Molecular Sequence Data
Mutation
Patients
PTEN Phosphohydrolase - genetics
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Summary: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.
ISSN:0002-9297
1537-6605
DOI:10.1086/504301