ArticleAngiogenesis2022
A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
Article in Angiogenesis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 48 citations in OpenAlex.
- Allele-Specific GNAQ Q209 Mutations Reveal Context-Dependent Oncogenic Programs in Uveal Melanoma.Pigment cell & melanoma research · 2026Article
- From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity.International journal of molecular sciences · 2026Review
- Review
- Port-wine stains: molecular drivers, translational models, and emerging theragnostic directions.Lasers in medical science · 2026Review
- Epilepsy, Cognitive, and Behavioral Outcomes in Neurocutaneous Syndromes: A Comparative Review of NF1, TSC, and Sturge-Weber Syndrome.Children (Basel, Switzerland) · 2026Review
- Calcineurin-NFAT-DSCR1.4 signaling as druggable axis in Gαq-R183Q-driven capillary malformations.Angiogenesis · 2026Article
- Vascular malformations: from genetics to therapeutics.EMBO molecular medicine · 2026Review
- MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Common and distinct circulating microRNAs in four neurovascular disorders.Biochemistry and biophysics reports · 2025Article
- Biomarker development in Sturge-Weber syndrome.Journal of neurodevelopmental disorders · 2025Review
- An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.Angiogenesis · 2025Article
- Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment.Eye and vision (London, England) · 2025Review
- Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.Frontiers in neurology · 2025Review
- R183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model.Journal of vascular anomalies · 2024Article
- Article
- GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.American journal of human genetics · 2024Article
- Congenital Vascular and Lymphatic Diseases.Circulation research · 2024Review
- Capillary malformations.The Journal of clinical investigation · 2024Review
- Coexistence of kaposiform hemangioendothelioma and capillary malformation: More than a coincidence? Two case reports.Heliyon · 2024Article
- GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.The Journal of investigative dermatology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Sturge-Weber syndrome (SWS) is a sporadic, congenital, neuro-cutaneous disorder characterized by a mosaic, capillary malformation. SWS and non-syndromic capillary malformations are both caused by a somatic activating mutation in GNAQ encoding the G protein subunit alpha-q protein. The missense mutation R183Q is the sole GNAQ mutation identified thus far in 90% of SWS-associated or isolated capillary malformations. In this study, we sequenced skin biopsies of capillary malformations from 9 patients. We identified the R183Q mutation in nearly all samples, but one sample exhibited a Q209R mutation. This new mutation occurs at the same residue as the constitutively-activating Q209L mutation, commonly seen in tumors. However, Q209R is a rare variant in this gene. To compare the effect of the Q209R mutation on downstream signaling, we performed reporter assays with a GNAQ-responsive reporter co-transfected with either GNAQ WT, R183Q, Q209L, Q209R, or C9X (representing a null allele). Q209L showed the highest reporter activation, with R183Q and Q209R showing significantly lower activation. To determine whether these mutations had similar or different downstream consequences we performed RNA-seq analysis in microvascular endothelial cells (HMEC-1) electroporated with the same GNAQ variants. The R183 and Q209 missense variants caused extensive dysregulation of a broad range of transcripts compared to the WT or null allele, confirming that these are all activating mutations. However, the missense variants exhibited very few differentially expressed genes (DEGs) when compared to each other. These data suggest that these activating GNAQ mutations differ in magnitude of activation but have similar downstream effects.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.