Sun Y, Liu YD, Xu ZF, Kong QX, Wang YL. CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature. World J Clin Cases 2018; 6(12): 570-576 [PMID: 30397616 DOI: 10.12998/wjcc.v6.i12.570]
Corresponding Author of This Article
Qing-Xia Kong, MD, PhD, Chief Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, Guhuai Road No. 89, Jining 272000, Shandong Province, China. kxdqy8@sohu.com
Research Domain of This Article
Medicine, Research & Experimental
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Oct 26, 2018; 6(12): 570-576 Published online Oct 26, 2018. doi: 10.12998/wjcc.v6.i12.570
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature
Ying Sun, Yi-Dan Liu, Zhi-Feng Xu, Qing-Xia Kong, Yan-Ling Wang
Ying Sun, Yi-Dan Liu, Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China
Zhi-Feng Xu, First Hospital of Handan, Handan 056002, Hebei Province, China
Qing-Xia Kong, Yan-Ling Wang, Department of Neurology, Affiliated Hospital of Jining Medical University, Jining 272000, Shandong Province, China
Author contributions: Kong QX and Wang YL designed the study and wrote the manuscript; Sun Y, Liu YD and Xu ZF collected the clinical data and edited the manuscript.
Supported byJining Medical University, No. JYP201740.
Informed consent statement: The patient involved in this study gave his written informed consent authorizing use and disclosure of his protected health information.
Conflict-of-interest statement: All authors have declared no competing interests exist.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Qing-Xia Kong, MD, PhD, Chief Doctor, Department of Neurology, Affiliated Hospital of Jining Medical University, Guhuai Road No. 89, Jining 272000, Shandong Province, China. kxdqy8@sohu.com
Telephone: +86-18678766805 Fax: +86-537-2213030
Received: July 2, 2018 Peer-review started: July 2, 2018 First decision: July 29, 2018 Revised: August 21, 2018 Accepted: August 28, 2018 Article in press: August 28, 2018 Published online: October 26, 2018 Processing time: 116 Days and 23.4 Hours
Abstract
The mutation in CNKSR2 leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language impairment, attention deficit hyperactivity disorder and autism. Electroencephalograms showed continuous spike-and-wave during sleep. Genetic testing revealed a de novo mutation of the CNKSR2 gene (c.2185C>T, p.Arg729Ter) in the child that was not detected in the parents. Therefore, the child was diagnosed with X-linked epilepsy aphasia syndrome. Deletion of the CNKSR2 gene has been rarely reported in epilepsy aphasia syndrome, but no de novo mutation has been found in this gene. This report not only adds to the spectrum of epilepsy aphasia syndrome but also helps clinicians in diagnosis and genetic counseling.
Core tip: Patient with epileptic seizures and progressive language impairment. Genetic testing revealed a de novo mutation of the CNKSR2 gene in the child and was not detected in the parents. Therefore, the gene may lead to X-linked epilepsy aphasia syndrome.
