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Article

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

The New England journal of medicine - 23 May 2013

Shirley Matthew D, Tang Hao, Gallione Carol J, Baugher Joseph D, Frelin Laurence P, Cohen Bernard, North Paula E, Marchuk Douglas A, Comi Anne M, Pevsner Jonathan

Abstract excerpt

BACKGROUND: The Sturge-Weber syndrome is a sporadic congenital neurocutaneous disorder characterized by a port-wine stain affecting the skin in the distribution of the ophthalmic branch of the trigeminal nerve, abnormal capillary venous vessels in the leptomeninges of the brain and choroid, glauc...

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Source

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Identifiers

PMID: 23656586
DOI: 10.1056/NEJMoa1213507
PMCID: PMC3749068

Genes

GNAQ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23656586-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.PMID 23656586Read ↗

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Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.Semantic proximity Read ↗

A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Semantic proximity Read ↗

Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome.Semantic proximity Read ↗

A somatic missense mutation in GNAQ causes capillary malformationSemantic proximity Read ↗

A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.Semantic proximity Read ↗

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.Semantic proximity Read ↗

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.Semantic proximity Read ↗

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