J Pediatr Neurol 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
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Weitere Informationen

Publikationsverlauf

10. Januar 2018

04. April 2018

Publikationsdatum:
18.Mai 2018 (eFirst)

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.