ArticleAmerican journal of human genetics2015
A somatic MAP3K3 mutation is associated with verrucous venous malformation.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 143 citations in OpenAlex.
- A targeted vector for brain endothelial cell gene delivery and cerebrovascular malformation modelling.Nature biomedical engineering · 2026Article
- Verrucous Venous Malformation Presenting on the Face: A Case Series of Two Patients.Acta dermato-venereologica · 2026Article
- Somatic Genetic Testing Provides Diagnosis of Verrucous Venous Malformation in an Individual with Discrepant Radiology, Pathology, and Clinical Findings.Journal of vascular anomalies · 2025Article
- Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant.Acta dermato-venereologica · 2025Article
- Violaceous, hyperkeratotic plaque in a pediatric patient.JAAD case reports · 2025Article
- Unanticipated Squamous Cell Carcinoma in a Giant Verrucous Venous Malformation.Acta dermato-venereologica · 2025Article
- 30 years' experience in the use of cutaneous lasers for the treatment of verrucous venous malformations in children: a retrospective cohort study at Great Ormond Street Hospital for children.Lasers in medical science · 2025Article
- Multi-disciplinary diagnosis and management of verrucous venous malformation of the right knee: a case report.Frontiers in radiology · 2025Article
- Venous Malformations: Unraveling Latest Mechanisms and Bridging Gaps in Targeted Therapy Development.International journal of biological sciences · 2025Review
- Rare Case of Pediatric Lower Limb Verrucous Venous Malformation: Treatment Approach and Considerations.Eplasty · 2025Article
- Review
- Congenital Vascular and Lymphatic Diseases.Circulation research · 2024Review
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- SomaticStroke and vascular neurology · 2023Article
- Pathophysiology of Slow-Flow Vascular Malformations: Current Understanding and Unanswered Questions.Journal of vascular anomalies · 2023Review
- Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.Orphanet journal of rare diseases · 2023Article
- The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Venous Malformations.Journal of vascular anomalies · 2023Review
- Shaping the brain vasculature in development and disease in the single-cell era.Nature reviews. Neuroscience · 2023Review
- Microphysiological model of PIK3CA-driven vascular malformations reveals a role of dysregulated Rac1 and mTORC1/2 in lesion formation.Science advances · 2023Article
- Molecular and genetic mechanisms in brain arteriovenous malformations: new insights and future perspectives.Neurosurgical review · 2022Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Verrucous venous malformation (VVM), also called "verrucous hemangioma," is a non-hereditary, congenital, vascular anomaly comprised of aberrant clusters of malformed dermal venule-like channels underlying hyperkeratotic skin. We tested the hypothesis that VVM lesions arise as a consequence of a somatic mutation. We performed whole-exome sequencing (WES) on VVM tissue from six unrelated individuals and looked for somatic mutations affecting the same gene in specimens from multiple persons. We observed mosaicism for a missense mutation (NM_002401.3, c.1323C>G; NP_002392, p.Iso441Met) in mitogen-activated protein kinase kinase kinase 3 (MAP3K3) in three of six individuals. We confirmed the presence of this mutation via droplet digital PCR (ddPCR) in the three subjects and found the mutation in three additional specimens from another four participants. Mutant allele frequencies ranged from 6% to 19% in affected tissue. We did not observe this mutant allele in unaffected tissue or in affected tissue from individuals with other types of vascular anomalies. Studies using global and conditional Map3k3 knockout mice have previously implicated MAP3K3 in vascular development. MAP3K3 dysfunction probably causes VVM in humans.
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