ArticleMolecular syndromology2013
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 105 citations in OpenAlex.
- Decreased Kinase Activity of the VEGFR3 Variant c.3175G>C Associated with Primary Lymphedema.Current issues in molecular biology · 2026Article
- Primary Lymphedema: Anatomically Isolated or a Pervasive Systemic Disorder?Plastic and reconstructive surgery. Global open · 2024Article
- Article
- VEGFR-3 signaling in macrophages: friend or foe in disease?Frontiers in immunology · 2024Review
- A Comparative Analysis to Dissect the Histological and Molecular Differences among Lipedema, Lipohypertrophy and Secondary Lymphedema.International journal of molecular sciences · 2023Article
- Visualization of Organ-Specific Lymphatic Growth: An Efficient Approach to Labeling Molecular Markers in Cleared Tissues.International journal of molecular sciences · 2023Article
- Case Report: The compound heterozygotes variants inFrontiers in genetics · 2023Article
- A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.European journal of medical research · 2022Article
- Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing.Scientific reports · 2022Article
- Primary Lymphedema: Update on Genetic Basis and Management.Advances in wound care · 2022Article
- Primary Upper Extremity Lymphedema Caused by aJournal of vascular anomalies · 2022Article
- Symptomatic and Stenotic Developmental Venous Anomaly with Pontine Capillary Telangiectasia: A Case Report with Genetic Considerations.NMC case report journal · 2022Article
- An RNA helicase swirls in lymphangiogenesis.Nature cell biology · 2021Article
- Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.TheScientificWorldJournal · 2021Article
- The Lymphatic Vasculature in the 21Cell · 2020Review
- Cell Fate Determination of Lymphatic Endothelial Cells.International journal of molecular sciences · 2020Review
- Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).Blood · 2020Review
- Article
- Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow.The Journal of clinical investigation · 2020Article
- Prioritization of genes involved in endothelial cell apoptosis by their implication in lymphedema using an analysis of associative gene networks with ANDSystem.BMC medical genomics · 2019Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes have been identified in different isolated or syndromic forms of lymphedema. However, the prevalence of primary lymphedema that can be explained by these genetic alterations is unknown. In this study, we investigated 7 of these putative genes. We screened 78 index patients from families with inherited lymphedema for mutations in FLT4, GJC2, FOXC2, SOX18, GATA2, CCBE1, and PTPN14. Altogether, we discovered 28 mutations explaining 36% of the cases. Additionally, 149 patients with sporadic primary lymphedema were screened for FLT4, FOXC2, SOX18, CCBE1, and PTPN14. Twelve mutations were found that explain 8% of the cases. Still unidentified is the genetic cause of primary lymphedema in 64% of patients with a family history and 92% of sporadic cases. Identification of those genes is important for understanding of etiopathogenesis, stratification of treatments and generation of disease models. Interestingly, most of the proteins that are encoded by the genes mutated in primary lymphedema seem to act in a single functional pathway involving VEGFR3 signaling. This underscores the important role this pathway plays in lymphatic development and function and suggests that the unknown genes also have a role.
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