Li Yong, Shu Junhua, Cheng Ying, Zhou Xiaoqing, Huang Tao
Department of Pediatric Intensive Care Unit, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Pediatrics, Maternal and Child Health Hospital of Hubei Province, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Front Med (Lausanne). 2022 Aug 16;9:963883. doi: 10.3389/fmed.2022.963883. eCollection 2022.
The Angelman Syndrome (AS) is an extreme neurodevelopmental disorder without effective treatments. While most patients with this disease can be diagnosed by genetic testing, there are still a handful of patients have an unrecognized genetic cause for their illness. Thus, novel approaches to clinical diagnosis and treatment are urgently needed. The aim of this study was to identify and characterize differentially expressed genes involved in AS and built potential diagnostic panel for AS by NGS sequencing. A multi-cohort analysis framework was used to analyze stem cell-derived neurons from AS patients in GSE160747 dataset. We identified three differentially expressed genes (ACTN1, ADAMTS2, SLC30A8) differentiates AS patients from controls. Moreover, we validated the expression patterns of these genes in GSE146640, GSE120225. Receiver operating characteristic (ROC) curves analysis demonstrated that these genes could function as potential diagnostic biomarkers [AUC = 1 (95% CI 1-1)]. This study may provide new approach for diagnosing patients with AS and helping to develop novel therapies in treating AS patients.
天使综合征（AS）是一种严重的神经发育障碍，尚无有效治疗方法。虽然大多数该疾病患者可通过基因检测确诊，但仍有少数患者的病因未被识别。因此，迫切需要新的临床诊断和治疗方法。本研究旨在通过NGS测序鉴定和表征与AS相关的差异表达基因，并构建AS的潜在诊断面板。使用多队列分析框架分析GSE160747数据集中AS患者的干细胞衍生神经元。我们鉴定出三个差异表达基因（ACTN1、ADAMTS2、SLC30A8）可区分AS患者与对照。此外，我们在GSE146640、GSE120225中验证了这些基因的表达模式。受试者工作特征（ROC）曲线分析表明，这些基因可作为潜在的诊断生物标志物[AUC = 1（95% CI 1 - 1）]。本研究可能为诊断AS患者提供新方法，并有助于开发治疗AS患者的新疗法。
