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

• DOI: 10.1055/s-0038-1651520
• Publication Date: 2018-05-18T18:52:34Z
• Authors: Jana Neupauerová; Katalin Štěrbová; Vladimír Komárek; Andrea Gřegořová; Markéta Vlčková; David Staněk; Pavel Seeman; Petra Laššuthová; Markéta Havlovicová
• Keywords: Sanger sequencing; Exome

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 correlation with already published variants cases allowed us to identify two different de novo mutations in the SETBP1 gene: NM_015559.2 (SETBP1): c.2601C > G (p.Ser867Arg) c. 2608 A (p.Gly870Ser) Czech patients presenting SGS features. Both are within exon 4 of SETBP1, supporting notion that represents mutation hotspot gene SGS.