Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
Delnatte, Capucine × Sanlaville, Damien Mougenot, Jean-Francois Vermeesch, Joris Houdayer, Claude de Blois, Marie-Christine Genevieve, David Goulet, Olivier Fryns, Jean-Pierre Jaubert, Francis Vekemans, Michel Lyonnet, Stanislas Romana, Serge Eng, Charis Stoppa-Lyonnet, Dominique #
American Journal of Human Genetics vol:78 issue:6 pages:1066-1074
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.