Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization. Issue 9 (6th August 2015)

• Record Type: Journal Article
• Authors: 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;
• Is Part Of: Human mutation. Volume 36:Issue 9(2015:Sep.)
• Page Start: 894
• Page End: 902
• Publication Date: 2015-08-06
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22824
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22824-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>CDKN1C loss‐of‐function mutations cause Beckwith Wiedemann syndrome (BWS). We report here 37 mutations in 38 pedigrees of BWS. Expressivity of the disease is variable, especially regarding abdominal wall defects. Missense mutations lead to a less severe phenotype regarding abdominal wall defects <italic>CDKN1C</italic> mutations should be investigated in case of BWS with no methylation defect within the 11p15 region and an abdominal wall defect, cleft palate, hypospadias and/or a familial history of BWS. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj2f6z6twx" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>