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Article

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

European journal of human genetics : EJHG - 1 May 2013

Ellaway Carolyn J, Ho Gladys, Bettella Elisa, Knapman Alisa, Collins Felicity, Hackett Anna, McKenzie Fiona, Darmanian Artur, Peters Gregory B, Fagan Kerry, Christodoulou John

Abstract excerpt

Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 22968132
DOI: 10.1038/ejhg.2012.208
PMCID: PMC3641384

Genes

FOXG1
PRKD1
CDKL5
MECP2

Variants

Provenance

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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