Copyright © 2006 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 78, Issue 6, 1066-1074, 1 June 2006
doi:10.1086/504301
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Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes
Capucine Delnatte1, *, Damien Sanlaville2, *, Jean-François Mougenot3, Joris-Robert Vermeesch6, Claude Houdayer1, Marie-Christine de Blois2, David Genevieve2, Olivier Goulet3, Jean-Pierre Fryns6, Francis Jaubert4, Michel Vekemans2, Stanislas Lyonnet2, Serge Romana2, 5, Charis Eng7 and Dominique Stoppa-Lyonnet1, 
, 
1 Department of Genetics, Institut Curie, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris
2 Department of Genetics, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris
3 Department of Pediatrics, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris
4 Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris
5 INSERM Equipe Mixte INSERM E0210, Paris
6 Center of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium
7 Cleveland Clinic Genomic Medicine Institute and Department of Genetics, Case Western Reserve University School of Medicine, Cleveland
Address for correspondence and reprints: Dr. Dominique Stoppa-Lyonnet, 26 rue d’Ulm, F-75248 Paris cedex 5, France* These two authors contributed equally to this work.
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.
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