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Article

A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient.

Orphanet journal of rare diseases - 19 Jul 2013

Sheikh Taimoor I, Mittal Kirti, Willis Mary J, Vincent John B

Abstract excerpt

BACKGROUND: Mutations in MECP2 are the main cause of Rett Syndrome. To date, no pathogenic synonymous MECP2 mutation has yet been identified. Here, we investigated a de novo synonymous variant c.48C>T (p.Gly16Gly) identified in a girl presenting with a typical RTT phenotype. METHODS: In silico analyses to predict the effects of sequence variation on mRNA splicing were employed, followed by sequencing and...

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Identifiers

PMID: 23866855
DOI: 10.1186/1750-1172-8-108
PMCID: PMC3729535

Genes

MECP2

Variants

Provenance

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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