Article
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017
Kuentz Paul, St-Onge Judith, Duffourd Yannis, Courcet Jean-Benoît, Carmignac Virginie, Jouan Thibaud, Sorlin Arthur, Abasq-Thomas Claire, Albuisson Juliette, Amiel Jeanne, Amram Daniel, Arpin Stéphanie, Attie-Bitach Tania, Bahi-Buisson Nadia, Barbarot Sébastien, Baujat Geneviève, Bessis Didier, Boccara Olivia, Bonnière Maryse, Boute Odile, Bursztejn Anne-Claire, Chiaverini Christine, Cormier-Daire Valérie, Coubes Christine, Delobel Bruno, Edery Patrick, Chehadeh Salima El, Francannet Christine, Geneviève David, Goldenberg Alice, Haye Damien, Isidor Bertrand, Jacquemont Marie-Line, Khau Van Kien Philippe, Lacombe Didier, Martin Ludovic, Martinovic Jelena, Maruani Annabel, Mathieu-Dramard Michèle, Mazereeuw-Hautier Juliette, Michot Caroline, Mignot Cyril, Miquel Juliette, Morice-Picard Fanny, Petit Florence, Phan Alice, Rossi Massimiliano, Touraine Renaud, Verloes Alain, Vincent Marie, Vincent-Delorme Catherine, Whalen Sandra, Willems Marjolaine, Marle Nathalie, Lehalle Daphné, Thevenon Julien, Thauvin-Robinet Christel, Hadj-Rabia Smaïl, Faivre Laurence, Vabres Pierre, Rivière Jean-Baptiste
Abstract excerpt
PURPOSE: Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. METHODS: We performed ultradeep next-generation sequencing (NGS) of PIK3CA in various tissues from 162 patients referred to our clinical laboratory and assessed diagnostic...
Read the complete abstract on PubMed