GeneticsbioRxivPreprint
Translational reading frame determines the pathogenicity of C-terminal frameshift deletions in MeCP2: an alternative therapeutic approach
Jacky Guy, Elena Hein, Beatrice Alexander-Howden…·Adrian Peter Bird
The paper identifies that C-terminal deletions in MECP2 cause Rett syndrome by reducing MeCP2 levels due to a specific reading frame shift, and shows a gene-editing strategy to correct this.