Published online Oct 26, 2018. doi: 10.12998/wjcc.v6.i12.570
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
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.