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Related Experiment Video

Updated: Jul 4, 2026

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
07:36

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Published on: May 1, 2015

Candidate gene analysis in primary lymphedema.

Robert E Ferrell1, Mark A Kimak, Elizabeth C Lawrence

  • 1Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, PA 15261, USA. rferrell@hgen.pitt.edu

Lymphatic Research and Biology
|June 21, 2008
PubMed
Summary

Researchers investigated genetic causes of primary lymphedema by sequencing candidate genes. Mutations in FABP4, NRP2, SOX17, and VCAM1 show potential links to the condition, warranting further study.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Primary lymphedema results from mutations affecting lymphatic development and function.
  • Known mutations in VEGFR3, FOXC2, and SOX18 explain only a portion of primary lymphedema cases.

Purpose of the Study:

  • To identify novel genes associated with primary lymphedema.
  • To resequence 25 candidate genes in families affected by primary lymphedema.

Main Methods:

  • Candidate gene selection based on lymphatic endothelial cell expression, lymphatic antigenic expression, and mouse models.
  • Sequencing of gene regulatory regions and coding sequences (exons, flanking introns) for 25 candidate genes.

Main Results:

  • No common causative mutations were found across the 25 screened genes.

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A Revised Method for Inducing Secondary Lymphedema in the Hindlimb of Mice
09:50

A Revised Method for Inducing Secondary Lymphedema in the Hindlimb of Mice

Published on: November 2, 2019

Related Experiment Videos

Last Updated: Jul 4, 2026

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
07:36

Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting

Published on: May 1, 2015

A Revised Method for Inducing Secondary Lymphedema in the Hindlimb of Mice
09:50

A Revised Method for Inducing Secondary Lymphedema in the Hindlimb of Mice

Published on: November 2, 2019

  • Single mutations were identified in EMILIN1, LCP2, FABP4, SYK, NRP2, SOX17, VCAM1, RORC, and VEGFB.
  • Mutations in FABP4, NRP2, SOX17, and VCAM1 were consistent with causality but require further validation in larger families.

    • Conclusions:

    • 21 candidate genes were excluded as common causes of primary lymphedema.
    • FABP4, NRP2, SOX17, and VCAM1 are promising candidates for harboring causative mutations.
    • Further investigation into FABP4's role in primary lymphedema is recommended.