Schinzel-Giedion Syndrome (SGS)

Research Publications for Schinzel-Giedion Syndrome (SGS)

Zheng, J., Gu, M., & Xu, X. (2024). Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature. BMC Pediatrics, 24, 309.
Whitlock, J. H., Soelter, T. M., Howton, T. C., Wilk, E. J., Oza, V. H., & Lasseigne, B. N. (2023). Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1S858R Schinzel Giedion Syndrome mice. 27(22), 3565–3577. https://doi.org/10.1111/jcmm.18001
Banfi, F., Rubio, A., Zaghi, M., Massimino, L., Piazza, R., Mologni, L., Broccoli, V., & Sessa, A. (2021). SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome. Nature Communications, 12(4050). https://doi.org/https://doi.org/10.1038/s41467-021-24391-3
Sullivan, J. A., Stong, N., Baugh, E. H., McDonald, M. T., Takeuchi, A., & Shashi, V. (2020). A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome. American Journal of Medical Genetics.
Piazza, R., Magistroni, V., Redaelli, S., Mauri, M., Massimino, L., Sessa, A., Peronaci, M., Lalowski, M., Soliymani, R., Mezzatesta, C., Pirola, A., Banfi, F., Rubio, A., Rea, D., Stagno, F., Usala, E., Martino, B., Campiotti, L., Merli, M., … Gambacorti-Passerini, C. (2018). SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. Nature Communications, 9(2192).
Liu, W. L., He, Z. X., Li, F., Ai, R., & Ma, H. W. (2018). Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria. Journal of Genetics, 97(1), 35–46.
Acuña-Hidalgo, R., Deriziotis, P., Steehouwer, M., Gilissen, C., Graham, S. A., van Dam, S., Hoover-Fong, J., Telegraf, 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., … van Bon, B. W. (2017). Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genetics, 13(3).
Herenger, Y., Stoetzel, C., Schaefer, E., Scheidecker, S., Manière, M. C., Pelletier, V., & Dollfus, H. (2015). Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations. European Journal of Medical Genetics, 58(9), 479–487.
Carvalho, E., Honjo, R., Magalha˜es, M., Chong, K., & Bertol, D. (2014). Schinzel–Giedion Syndrome in Two Brazilian Patients: Report of a Novel Mutation in SETBP1 and Literature Review of the Clinical Features. American Journal of Medical Genetics, Part A(167A), 1039–1046.
Hoischen, A., van Bon, B. W., Gilissen C, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., & Veltman, J. A. (2010). De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nature Genetics, 42(6), 483–485.
Schinzel, A., & Giedion, A. (1978). A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. American Journal of Medical Genetics, 1(4), 361–375.