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

Autor:	Olivier Goulet, Claude Houdayer, Marie Christine De Blois, Jean Pierre Fryns, Dominique Stoppa-Lyonnet, Damien Sanlaville, Stanislas Lyonnet, Charis Eng, Michel Vekemans, Capucine Delnatte, J. F. Mougenot, Joris Vermeesch, Serge Romana, David Geneviève, Francis Jaubert
Rok vydání:	2006
Předmět:	Male medicine.medical_specialty Tumor suppressor gene Molecular Sequence Data Biology Contiguous gene syndrome Germline Germline mutation Report Genetics medicine Humans PTEN Genes Tumor Suppressor Genetics(clinical) Juvenile polyposis syndrome Letter to the Editor Bone Morphogenetic Protein Receptors Type I Germ-Line Mutation Genetics (clinical) Base Sequence Chromosomes Human Pair 10 Intestinal Polyposis PTEN Phosphohydrolase Infant medicine.disease BMPR1A Child Preschool biology.protein Medical genetics Gene Deletion
Zdroj:	The American Journal of Human Genetics. 78:1066-1074
ISSN:	0002-9297
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea771392133b3377738caff70df79a81 https://doi.org/10.1086/504301 Zobrazit plný text záznamu