Journal of Pediatric Neurology 2019; 17(03): 125-127
DOI: 10.1055/s-0038-1651520
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis

Jana Neupauerová
1   Department of Paediatric Neurology, DNA Laboratory, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic
,
Katalin Štěrbová
2   Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
,
Vladimír Komárek
2   Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
,
Andrea Gřegořová
3   Department of Medical Genetics, University Hospital Ostrava, Ostrava-Poruba, Czech Republic
,
Markéta Vlčková
4   Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
,
David Staněk
1   Department of Paediatric Neurology, DNA Laboratory, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic
,
Pavel Seeman
1   Department of Paediatric Neurology, DNA Laboratory, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic
,
Petra Laššuthová
1   Department of Paediatric Neurology, DNA Laboratory, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic
,
Markéta Havlovicová
4   Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic
› Author Affiliations
Further Information

Publication History

10 January 2018

04 April 2018

Publication Date:
18 May 2018 (online)

Abstract

Schinzel–Giedion syndrome (SGS) is a very rare genetic disorder characterized by distinctive facial features, severe developmental delay, seizures, and skeletal abnormalities. Whole exome sequencing, Sanger sequencing, and correlation with already published variants and cases allowed us to identify two different de novo mutations in the SETBP1 gene: NM_015559.2 (SETBP1): c.2601C > G (p.Ser867Arg) and c. 2608 G > A (p.Gly870Ser) in two Czech patients presenting with SGS features. Both mutations are within exon 4 of SETBP1, supporting the notion that exon 4 represents the mutation hotspot of the gene in patients with SGS.

 
  • References

  • 1 Schinzel A, Giedion A. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1978; 1 (04) 361-375
  • 2 Okamoto N, Takeuchi M, Kitajima H, Hosokawa S. A patient with Schinzel-Giedion syndrome and a review of 20 patients. Jpn J Hum Genet 1995; 40 (02) 189-193
  • 3 Carvalho E, Honjo R, Magalhães M. , et al. Schinzel-Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A 2015; 167A (05) 1039-1046
  • 4 Hoischen A, van Bon BW, Gilissen C. , et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet 2010; 42 (06) 483-485
  • 5 Lestner JM, Chong WK, Offiiah A, Kefas J, Vandersteen AM. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. Clin Dysmorphol 2012; 21 (03) 152-154
  • 6 Suphapeetiporn K, Srichomthong C, Shotelersuk V. SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. Clin Genet 2011; 79 (04) 391-393
  • 7 Ko JM, Lim BC, Kim KJ. , et al. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. Childs Nerv Syst 2013; 29 (04) 525-529
  • 8 Minakuchi M, Kakazu N, Gorrin-Rivas MJ. , et al. Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur J Biochem 2001; 268 (05) 1340-1351
  • 9 Su AI, Wiltshire T, Batalov S. , et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci U S A 2004; 101 (16) 6062-6067
  • 10 Filges I, Shimojima K, Okamoto N. , et al. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet 2011; 48 (02) 117-122
  • 11 Hishimura Y. Interactions with conspecific attenuate conditioned taste aversions in mice. Behav Processes 2015; 111: 34-36
  • 12 Coccaro N, Tota G, Zagaria A, Anelli L, Specchia G, Albano F. SETBP1 dysregulation in congenital disorders and myeloid neoplasms. Oncotarget 2017; 8 (31) 51920-51935