Article

Early transcriptional signatures of MeCP2 positive and negative cells in Rett syndrome

2025-06-26

Abstract excerpt

Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations. Like other X-linked disorders, RTT patients have sex-specific differences in clinical presentation due to distinct cellular environments, where females have ∼50% of cells expressing either a mutant or wild-type copy of MECP2 (mosaic) and males have 100% of cells expressing a mutant MECP2 (non-mosaic). Typical RTT females have a...

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Literature Corpus work: 70c459b2-623d-59be-8253-43e36afac595
DOI: 10.1101/2025.06.26.661761

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