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

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

Abstract 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 contrib...

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Main Authors: Xiaolan Fang, Kameryn M. Butler, Fatima Abidi, Jennifer Gass, Arthur Beisang, Timothy Feyma, Robin C. Ryther, Shannon Standridge, Peter Heydemann, Mary Jones, Richard Haas, David N Lieberman, Eric D. Marsh, Tim A. Benke, Steve Skinner, Jeffrey L. Neul, Alan K. Percy, Michael J. Friez, Raymond C. Caylor
Format: Article
Language:English
Published: Wiley 2022-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CDKL5 deficiency disorder
MECP2
preferential inactivation of parental alleles
Rett syndrome
X‐chromosome inactivation
Online Access:https://doi.org/10.1002/mgg3.1917

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