Publication: Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
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Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S. A., van Dam, S., Hoover-Fong, J., Telegrafi, A. B., Destree, A., Smigiel, R., Lambie, L. A., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M. L., Aracena, M., Nur, B. G., Mihci, E., Moreira, L. M. A., … et al. (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13, e1006683. https://doi.org/10.1371/journal.pgen.1006683
Abstract
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Abstract
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. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical informati
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Creators (Authors)
- 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
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Acuna-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S. A., van Dam, S., Hoover-Fong, J., Telegrafi, A. B., Destree, A., Smigiel, R., Lambie, L. A., Kayserili, H., Altunoglu, U., Lapi, E., Uzielli, M. L., Aracena, M., Nur, B. G., Mihci, E., Moreira, L. M. A., … et al. (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13, e1006683. https://doi.org/10.1371/journal.pgen.1006683
