Article
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS genetics - 1 Mar 2017
Acuna-Hidalgo Rocio, Deriziotis Pelagia, Steehouwer Marloes, Gilissen Christian, Graham Sarah A, van Dam Sipko, Hoover-Fong Julie, Telegrafi Aida B, Destree Anne, Smigiel Robert, Lambie Lindsday A, Kayserili Hülya, Altunoglu Umut, Lapi Elisabetta, Uzielli Maria Luisa, Aracena Mariana, Nur Banu G, Mihci Ercan, Moreira Lilia M A, Borges Ferreira Viviane, Horovitz Dafne D G, da Rocha Katia M, Jezela-Stanek Aleksandra, Brooks Alice S, Reutter Heiko, Cohen Julie S, Fatemi Ali, Smitka Martin, Grebe Theresa A, Di Donato Nataliya, Deshpande Charu, Vandersteen Anthony, Marques Lourenço Charles, Dufke Andreas, Rossier Eva, Andre Gwenaelle, Baumer Alessandra, Spencer Careni, McGaughran Julie, Franke Lude, Veltman Joris A, De Vries Bert B A, Schinzel Albert, Fisher Simon E, Hoischen Alexander, van Bon Bregje W
Abstract excerpt
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein....
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