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Article

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Journal of medical genetics - 1 Mar 2014

Cuddapah Vishnu Anand, Pillai Rajesh B, Shekar Kiran V, Lane Jane B, Motil Kathleen J, Skinner Steven A, Tarquinio Daniel Charles, Glaze Daniel G, McGwin Gerald, Kaufmann Walter E, Percy Alan K, Neul Jeffrey L, Olsen Michelle L

Abstract excerpt

BACKGROUND: Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls, is characterised by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. Surprisingly, although the disorder is...

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Identifiers

PMID: 24399845
DOI: 10.1136/jmedgenet-2013-102113
PMCID: PMC4403764

Genes

MECP2

Variants

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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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