Article
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Genetics - 3 Sept 2025
Chen Eric, Schmitt Jessica, McIntosh Graeme, Young Barry P, Lian Tianshun, Liu Jie, Chen Kexin K, Liston J Beatrice, MacDonald Lily, Wang Bill, Medina Giro Sonia, Boehme Benjamin, Das Mriga, Indran Seevasant, Chao Jesse T, Rogic Sanja, Pavlidis Paul, Allan Douglas W, Loewen Christopher J R
Abstract excerpt
Pathogenic variants in MECP2 commonly lead to Rett syndrome, where MECP2's function as a DNA cytosine methylation reader is believed critical. MECP2 variants are also cataloged in individuals with autism spectrum disorder (ASD), including nine missense variants which had no known clinical significance at the start of this study. To assess these nine variants as risk alleles for ASD, we developed MECP2 variant...
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