Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes by Delnatte Capucine, Sanlaville Damien, Mougenot Jean-Francois, 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 in American journal of human genetics (2006). PubMed

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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