title: Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes.
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.
authors: Department of Genetics, Institut Curie, Paris, France.
authors: Capucine
authors: C
authors: Delnatte
authors: Damien
authors: D
authors: Sanlaville
authors: Jean-Francois
authors: JF
authors: Mougenot
authors: Joris-Robert
authors: JR
authors: Vermeesch
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authors: Houdayer
authors: Marie-Christine de
authors: MC
authors: Blois
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authors: Genevieve
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authors: Goulet
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authors: Fryns
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authors: Stanislas
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authors: Lyonnet
authors: Serge
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authors: Dominique
authors: D
authors: Stoppa-Lyonnet