Case Report
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
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 by Jining 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.

Keywords: Epilepsy; Language impairment; Mental retardation; De novo mutation of CNKSR2; X-linked epilepsy-aphasia syndrome

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.