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


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

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;: