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Article

Co-Occurring Genetic Mutations in Rett Syndrome and MECP2-Related Disorders-Clinical and Diagnostic Implications from a Case Series.

Genes - 27 Feb 2026

Singh Jatinder, Chishti Samiya, Santosh Paramala

Abstract excerpt

Background/Objectives: Factors modulating phenotypic variability in Rett syndrome (RTT, OMIM 312750) include X chromosome inactivation (XCI), type of MECP2 variant, and/or disease modifiers. Emerging evidence also points to multi-locus genetic variants. Understanding the phenotypic variability associated with multi-locus genetic diagnoses in individuals with RTT and MECP2-related disorders would be important not...

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Source

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Identifiers

PMID: 41898808
DOI: 10.3390/genes17030274
PMCID: PMC13025527

Genes

MECP2
CALM3
DYNC1H1
SETD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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