Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Fiche publication
Date publication
février 2017
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr VABRES Pierre, Pr THAUVIN-ROBINET Christel, Pr KUENTZ Paul, Dr ALBUISSON Juliette
Tous les auteurs :
Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB
Lien Pubmed
Résumé
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.
Mots clés
Adolescent, Adult, Alleles, Amino Acid Substitution, Child, Child, Preschool, Class I Phosphatidylinositol 3-Kinases, genetics, Disease Management, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, methods, Genotype, Growth Disorders, diagnosis, High-Throughput Nucleotide Sequencing, Humans, Infant, Infant, Newborn, Male, Mosaicism, Mutation, Phenotype, Prenatal Diagnosis, Sequence Analysis, DNA, Young Adult
Référence
Genet. Med.. 2017 Feb;: