ArticlePloS one2015
Genetic Variants Associated with Port-Wine Stains.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 52 citations in OpenAlex.
- Electrosclerotherapy for capillary malformations: study protocol for a randomised within-patient controlled pilot trial.BMJ open · 2017Trial
- Using selective laser trabeculoplasty to manage glaucoma in a child with phakomatosis pigmentovascularis.American journal of ophthalmology case reports · 2026Article
- 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
- Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.Molecular and cellular pediatrics · 2025Review
- Capillary malformations.The Journal of clinical investigation · 2024Review
- Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.Orphanet journal of rare diseases · 2023Article
- Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.Biomedicines · 2022Article
- Enhanced Activation of mTOR Signaling Pathway Was Found in the Hypertrophic and Nodular Lesions of Port Wine Stains.Clinical, cosmetic and investigational dermatology · 2022Article
- A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.Human molecular genetics · 2021Article
- Identification of a Mosaic Activating Mutation in GNA11 in Atypical Sturge-Weber Syndrome.The Journal of investigative dermatology · 2021Observational
- Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.Frontiers in surgery · 2020Review
- Site-specific pharmaco-laser therapy: A novel treatment modality for refractory port wine stains.Journal of clinical and translational research · 2019Review
- Article
- The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.International journal of molecular sciences · 2019Review
- A somatic missense mutation in GNAQ causes capillary malformation.Current opinion in hematology · 2019Review
- Vascular Malformations.Indian dermatology online journalReview
- Three Hundred Patients Treated with Ultrapulsed 980 nm Diode Laser for Skin Disorders.Indian journal of dermatologyArticle
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPort-wine stains (PWS) are capillary malformations, typically located in the dermis of the head and neck, affecting 0.3% of the population. Current theories suggest that port-wine stains are caused by somatic mutations that disrupt vascular development.
objectivesUnderstanding PWS genetic determinants could provide insight into new treatments.
methodsOur study used a custom next generation sequencing (NGS) panel and digital polymerase chain reaction to investigate genetic variants in 12 individuals with isolated port-wine stains. Importantly, affected and healthy skin tissue from the same individual were compared. A subtractive correction method was developed to eliminate background noise from NGS data. This allowed the detection of a very low level of mosaicism.
resultsA novel somatic variant GNAQ, c.547C>G, p.Arg183Gly was found in one case with 4% allele frequency. The previously reported GNAQ c.548G>A, p.Arg183Gln was confirmed in 9 of 12 cases with an allele frequency ranging from 1.73 to 7.42%. Digital polymerase chain reaction confirmed novel variants detected by next generation sequencing. Two novel somatic variants were also found in RASA1, although neither was predicted to be deleterious.
conclusionsThis is the second largest study on isolated, non-syndromic PWS. Our data suggest that GNAQ is the main genetic determinant in this condition. Moreover, isolated port-wine stains are distinct from capillary malformations seen in RASA1 disorders, which will be helpful in clinical evaluation.
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