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Updated: Jul 4, 2026
07:36
Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
Phenotypic characterization of primary lymphedema.
Fiona Connell1, Glen Brice, Peter Mortimer
1South West Thames Regional Genetics Unit, St Georges University of London, Cranmer Terrace, London, SW17 0RE, UK.
Annals of the New York Academy of Sciences
|June 4, 2008
Summary
Primary lymphedema phenotypes vary widely. Characterizing these phenotypes, like Milroy's disease and lymphedema-distichiasis syndrome, aids in identifying specific genetic causes.
Area of Science:
- Genetics
- Medical Genetics
- Clinical Phenotyping
Background:
- Primary lymphedema presents with diverse clinical features, including age of onset, edema location, and inheritance patterns.
- Understanding these variations is crucial for diagnosing and managing the condition.
Purpose of the Study:
- To describe and illustrate well-delineated phenotypes of genetically determined primary lymphedema.
- To highlight the role of phenotype characterization in identifying causative genes.
Main Methods:
- Clinical description and illustration of distinct primary lymphedema phenotypes.
- Review of genetic studies linking specific phenotypes to causative genes.
Main Results:
- Milroy's disease and lymphedema-distichiasis syndrome are presented as representative examples of genetically defined primary lymphedema with distinct phenotypes.
- The gene VEGFR3 is associated with Milroy's disease, and FOXC2 with lymphedema-distichiasis syndrome.
Conclusions:
- Detailed phenotype characterization is essential for advancing the genetic understanding of primary lymphedema.
- This approach has successfully identified key genes involved in specific lymphedema subtypes.
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