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Article

Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants.

International journal of molecular sciences - 21 Nov 2022

Perego Sara, Alari Valentina, Pietra Gianluca, Lamperti Andrea, Vimercati Alessandro, Camporeale Nicole, Garzo Maria, Cogliati Francesca, Milani Donatella, Vignoli Aglaia, Peron Angela, Larizza Lidia, Pizzorusso Tommaso, Russo Silvia

Abstract excerpt

Rett syndrome caused by MECP2 variants is characterized by a heterogenous clinical spectrum accounted for in 60% of cases by hot-spot variants. Focusing on the most frequent variants, we generated in vitro iPSC-neurons from the blood of RTT girls with p.Arg133Cys and p.Arg255*, associated to mild and severe phenotype, respectively, and of an RTT male harboring the close to p.Arg255*, p.Gly252Argfs*7 variant....

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Identifiers

PMID: 36430969
DOI: 10.3390/ijms232214491
PMCID: PMC9697612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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