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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10394980" target="_blank" >RIV/00064203:_____/19:10394980 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/19:10394980 RIV/00843989:_____/19:E0107852
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1J2InP0~m3" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=1J2InP0~m3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1055/s-0038-1651520" target="_blank" >10.1055/s-0038-1651520</a>

Result language
angličtina
Original language name
Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis
Original language description
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.
Czech name
—
Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)

Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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