Article
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Human mutation - 1 Sept 2015
Brioude Frederic, Netchine Irène, Praz Francoise, Le Jule Marilyne, Calmel Claire, Lacombe Didier, Edery Patrick, Catala Martin, Odent Sylvie, Isidor Bertrand, Lyonnet Stanislas, Sigaudy Sabine, Leheup Bruno, Audebert-Bellanger Séverine, Burglen Lydie, Giuliano Fabienne, Alessandri Jean-Luc, Cormier-Daire Valérie, Laffargue Fanny, Blesson Sophie, Coupier Isabelle, Lespinasse James, Blanchet Patricia, Boute Odile, Baumann Clarisse, Polak Michel, Doray Berenice, Verloes Alain, Viot Géraldine, Le Bouc Yves, Rossignol Sylvie
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder associating macroglossia, abdominal wall defects, visceromegaly, and a high risk of childhood tumor. Molecular anomalies are mostly epigenetic; however, mutations of CDKN1C are implicated in 8% of cases, including both sporadic and familial forms. We aimed to describe the phenotype of BWS patients with CDKN1C mutations and develop a functional test for...
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