The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome
This study expands the clinical and molecular understanding of Lessel-Kreienkamp syndrome by characterizing 45 new individuals with AGO2 variants, revealing a multisystemic neurodevelopmental disorder driven by diverse structural perturbations that disrupt specific AGO2 functions—including miRNA binding, P-body assembly, and phosphorylation-dependent turnover—thereby linking distinct molecular mechanisms to phenotypic variability.