Dataset Information
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Ontology highlight
ABSTRACT: Introduction
Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS).Methods
The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in CSNK2A1 (NM_001895: c.62G>A, p.R21Q; rs1402734448).Results
The proband has global developmental delay, speech disorders, epilepsy, and behavioral issues. Despite the previously reported cases, she manifested both atonic and myoclonic seizures simultaneously. Lastly, we provide a review of the reported cases with OCNDS.Discussion
p.R21Q causes OCNDS. Further studies are highly recommended concerning this mutation to validate the results of this study and expand the knowledge regarding CSNK2A1 and the phenotypic spectrum of OCNDS.
SUBMITTER: Jafari Khamirani H
PROVIDER: S-EPMC9801326 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review.
Molecular syndromology 20220331 5
<h4>Introduction</h4>Autosomal dominant pathogenic variations in the <i>CSNK2A1</i> gene cause Okur-Chung neurodevelopmental syndrome (OCNDS).<h4>Methods</h4>The proband and her parents were examined thoroughly and observed for any issues related to OCNDS. Furthermore, peripheral blood samples were collected from each subject for further investigations. Whole-exome sequencing identified a pathogenic variant in <i>CSNK2A1</i> (NM_001895: c.62G>A, p.R21Q; rs1402734448).<h4>Results</h4>The proband ...[more]
