Identification of key biomarkers in Angelman syndrome by a multi-cohort analysis.

ABSTRACT: 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 th

SUBMITTER: Li Y 

PROVIDER: S-EPMC9424609 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature