Related Experiment Video
Updated: Mar 26, 2026
Isolation of Human Lymphatic Endothelial Cells by Multi-parameter Fluorescence-activated Cell Sorting
Published on: May 1, 2015
A novel mutation in CELSR1 is associated with hereditary lymphedema
M L Gonzalez-Garay1, M B Aldrich1, J C Rasmussen1
1Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA.
Background:
Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans.
Case Presentation:
In this report, a rare early inactivating mutation in CELSR1 is found to be causal for non-syndromic, lower extremity lymphedema in a family across three generations. Near-infrared fluorescence lymphatic imaging shows that instead of being propelled within the lumen of well-defined lymphatic vessels, lymph moved in regions of both legs in an unusual fashion and within sheet-like structures.
Conclusion:
CELSRI may be responsible for primary, non-syndromic lymphedema in humans.
