Dysregulation of AGO2-miRNA dynamics underlies the AGO2-associated Lessel-Kreienkamp syndrome [RNA-Seq]

Mutations in human Argonaute genes, AGO1 and AGO2, are associated with neurodevelopmental disorders. Although multiple patients have been identified, the underlying molecular basis for pathogenesis remains unclear. Here, we performed an extensive investigation of five AGO2 mutations (p.L192P, p.A367P, p.T357M, p.F182del, and p.G733R) linked to different clinical severities. RNA was extracted from cerebral cortex tissue of heterozygous AGO2 L192P mutant mice and wildtype controls. Isolated RNA was subjected to RNA-sequencing.