Sun Ying, Liu Yi-Dan, Xu Zhi-Feng, Kong Qing-Xia, Wang Yan-Ling
Cheeloo College of Medicine, Shandong University, Jinan 250012, Shandong Province, China.
First Hospital of Handan, Handan 056002, Hebei Province, China.
World J Clin Cases. 2018 Oct 26;6(12):570-576. doi: 10.12998/wjcc.v6.i12.570.
The mutation in 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 mutation of the gene (>, ) in the child that was not detected in the parents. Therefore, the child was diagnosed with X-linked epilepsy aphasia syndrome. Deletion of the gene has been rarely reported in epilepsy aphasia syndrome, but no 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.
该基因的突变导致广泛的表型变异性，并表现为X连锁智力障碍。然而，我们报告本研究中的男性患者不仅有智力障碍，还患有癫痫发作。此外，还存在进行性语言障碍、注意力缺陷多动障碍和自闭症。脑电图显示睡眠期间有持续性棘慢波。基因检测发现该患儿存在该基因的一种突变（>，），而其父母未检测到。因此，该患儿被诊断为X连锁癫痫失语综合征。该基因的缺失在癫痫失语综合征中鲜有报道，但尚未在该基因中发现这种突变。本报告不仅增加了癫痫失语综合征的谱系，也有助于临床医生进行诊断和遗传咨询。
