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Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Acuna-Hidalgo R, et al. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28346496 Free PMC article.
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. ...
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurol …
Schinzel-Giedion syndrome with sacrococcygeal teratoma.
Sandri A, Manazza AD, Bertin D, Silengo M, Basso ME, Forni M, Madon E. Sandri A, et al. J Pediatr Hematol Oncol. 2003 Jul;25(7):558-61. doi: 10.1097/00043426-200307000-00012. J Pediatr Hematol Oncol. 2003. PMID: 12847324
A case of Schinzel-Giedion syndrome, a rare malformation syndrome, is described. ...According to this occurrence of uncommon tumors, risk of malignancy could be a component of Schinzel-Giedion syndrome....
A case of Schinzel-Giedion syndrome, a rare malformation syndrome, is described. ...According to this occurrence of unc …
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
BACKGROUND: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitourinary and renal m …
BACKGROUND: Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellec …
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T. Filges I, et al. J Med Genet. 2011 Feb;48(2):117-22. doi: 10.1136/jmg.2010.084582. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037274
BACKGROUND: Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion syndrome (SGS). As rare 18q interstitial deletions affecting multiple genes including SETBP1 correlate with a milder phenotype, i …
BACKGROUND: Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion …
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H. Herenger Y, et al. Eur J Med Genet. 2015 Sep;58(9):479-87. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15. Eur J Med Genet. 2015. PMID: 26188272
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. . …
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typica …
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma.
Robin NH, Grace K, DeSouza TG, McDonald-McGinn D, Zackai EH. Robin NH, et al. Am J Med Genet. 1993 Nov 1;47(6):852-6. doi: 10.1002/ajmg.1320470611. Am J Med Genet. 1993. PMID: 7506484
We report on a boy with Schinzel-Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacrococcygeal teratoma. ...
We report on a boy with Schinzel-Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacroco …
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome.
Matsumoto F, Tohda A, Shimada K, Okamoto N. Matsumoto F, et al. Int J Urol. 2005 Dec;12(12):1061-2. doi: 10.1111/j.1442-2042.2005.01213.x. Int J Urol. 2005. PMID: 16409612
We report the first case of malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of an 8-year-old girl with Schinzel-Giedion syndrome. Although conservative treatment has been regarded as the standard management for asymptomatic multicys …
We report the first case of malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of an 8-year-old girl with Schinze …
Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities.
Karnak I, Woo LL, Shah SN, Sirajuddin A, Kay R, Ross JH. Karnak I, et al. Pediatr Surg Int. 2008 Apr;24(4):395-402. doi: 10.1007/s00383-008-2112-1. Epub 2008 Feb 7. Pediatr Surg Int. 2008. PMID: 18256845
Contralateral multicystic dysplastic kidney (MCDK) was encountered in six patients (M/F = 2), one of whom presented with RF. One child carried the diagnosis of Schinzel-Giedion syndrome (SGS), demonstrating severe developmental and neurological disorders and …
Contralateral multicystic dysplastic kidney (MCDK) was encountered in six patients (M/F = 2), one of whom presented with RF. One child carri …