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Article

Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.

Pediatric neurology - 1 Feb 2017

Huang Lan, Couto Javier A, Pinto Anna, Alexandrescu Sanda, Madsen Joseph R, Greene Arin K, Sahin Mustafa, Bischoff Joyce

Abstract excerpt

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial and extracraniofacial capillary malformations and capillary-venule malformations in the leptomeninges. A somatic mosaic mutation in GNAQ (c.548G>A; p.R183Q) was found in SWS brain and skin capillary malformations. Our laboratory showed endothelial cells in skin capillary malformations are enriched for the...

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Source

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Identifiers

PMID: 27919468
DOI: 10.1016/j.pediatrneurol.2016.10.010
PMCID: PMC5303551

Genes

GNAQ

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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