PDF(Pubmed)
Abstract：
The mediator complex subunit 23 (MED23) gene encodes a protein that acts as a tail module mediator complex, a multi-subunit co-activator involved in several cellular activities. MED23 has been shown to have substantial roles in myogenesis and other molecular mechanisms. The functions of MED23 in the neurological system remain unclear and the clinical phenotype is not thoroughly described. Whole exome sequencing was used to identify a novel mutation in the MED23 gene. DNA capture probes using next-generation sequencing-based copy number variation analysis with Illumina array were performed. The clinical, demographic, neuroimaging, and electrophysiological data of the patients were collected, and similarly, the data of all reported cases in the literature were extracted to compare findings. Screening a total of 9,662 articles, we identified 22 main regulatory processes for the MED23 gene, including suppressive activity for carcinogenic processes. MED23 is also involved in the brain\'s neurogenesis and functions. The identified cases mainly presented with intellectual disability (87.5%) and developmental delay (50%). Seizures were present in only 18.75% of the patients. Slow backgrounds and spike and sharp-wave complexes were reported on the electroencephalogram (EEG) of a few patients and delayed myelination, thin corpus callosum, and pontine hypoplasia on magnetic resonance imaging (MRI). The MED23 gene regulates several processes in which its understanding promotes considerable therapeutic potential for patients. It is crucial to consider genetic and laboratory testing, particularly when encountering potential carriers. Intellectual disability and developmental delay are the most notable clinical signs with heterogeneous features on EEG and MRI.
摘要：
介体复合物亚基23（MED23）基因编码一种充当尾部模块介体复合物的蛋白质，参与几种细胞活动的多亚基共激活剂。MED23已被证明在肌生成和其他分子机制中具有重要作用。MED23在神经系统中的功能仍不清楚，临床表型也没有彻底描述。使用全外显子组测序来鉴定MED23基因中的新突变。用Illumina阵列进行使用下一代基于测序的拷贝数变异分析的DNA捕获探针。临床，人口统计学,神经影像学,收集患者的电生理数据，同样，我们提取了文献中所有报告病例的数据以比较结果.共筛选了9662篇文章,我们确定了MED23基因的22个主要调控过程，包括对致癌过程的抑制活性。MED23还参与大脑的神经发生和功能。已确定的病例主要表现为智力障碍（87.5％）和发育迟缓（50％）。仅18.75％的患者出现癫痫发作。在少数患者的脑电图（EEG）和延迟的髓鞘形成上报道了缓慢的背景以及尖峰和锐波复合物，薄的call体，磁共振成像（MRI）和脑桥发育不全。MED23基因调节几个过程，其中它的理解促进了患者的巨大治疗潜力。考虑基因和实验室测试至关重要，特别是当遇到潜在的载体时。智力障碍和发育迟缓是最明显的临床体征，在EEG和MRI上具有异质性特征。
