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Article

Analysis of X-inactivation status in a Rett syndrome natural history study cohort.

Molecular genetics & genomic medicine - 1 May 2022

Fang Xiaolan, Butler Kameryn M, Abidi Fatima, Gass Jennifer, Beisang Arthur, Feyma Timothy, Ryther Robin C, Standridge Shannon, Heydemann Peter, Jones Mary, Haas Richard, Lieberman David N, Marsh Eric D, Benke Tim A, Skinner Steve, Neul Jeffrey L, Percy Alan K, Friez Michael J, Caylor Raymond C

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder associated with pathogenic MECP2 variants. Because the MECP2 gene is subject to X-chromosome inactivation (XCI), factors including MECP2 genotypic variation, tissue differences in XCI, and skewing of XCI all likely contribute to the clinical severity of individuals with RTT. METHODS: We analyzed the XCI patterns from blood samples of 320...

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Identifiers

PMID: 35318820
DOI: 10.1002/mgg3.1917
PMCID: PMC9034674

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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