Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

Hossein Jafari Khamirani; Sina Zoghi; Ali Motealleh; Mehdi Dianatpour; Seyed Mohammad Bagher Tabei; Sanaz Mohammadi; Seyed Alireza Dastgheib

doi:10.1159/000522353

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

Mol Syndromol. 2022 Dec;13(5):381-388. doi: 10.1159/000522353. Epub 2022 Mar 31.

Authors

Hossein Jafari Khamirani^{1

2}, Sina Zoghi³, Ali Motealleh³, Mehdi Dianatpour^{2

4}, Seyed Mohammad Bagher Tabei^{2

5}, Sanaz Mohammadi¹, Seyed Alireza Dastgheib²

Affiliations

¹ Comprehensive Medical Genetics Center, Shiraz University of Medical Sciences, Shiraz, Iran.
² Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.
⁴ Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
⁵ Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

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.

Keywords: CSNK2A1; Epilepsy; Okur-Chung neurodevelopmental syndrome; Whole-exome sequencing.

Grants and funding

Shiraz University of Medical Sciences financially supported this study. The funder was not involved in designing and writing of the manuscript or submission.