A novel mutation in CELSR1 is associated with hereditary lymphedema

M. L. Gonzalez-Garay, M. B. Aldrich, J. C. Rasmussen, R. Guilliod, P. E. Lapinski, P. D. King, E. M. Sevick-Muraca

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Article number1
JournalVascular Cell
Volume8
Issue number1
DOIs
StatePublished - Feb 5 2016

Fingerprint

Lymphedema
Fluorescence
Infrared radiation
Imaging techniques
Mutation
Lymphatic Vessels
Optical Imaging
Lymph
Lower Extremity
Leg

Keywords

  • Near-infrared fluorescence imaging CELSR1
  • Planar polarity
  • Primary lymphedema
  • Whole exome sequencing

ASJC Scopus subject areas

  • Neurology
  • Developmental Neuroscience
  • Computer Networks and Communications
  • Cell Biology

Cite this

Gonzalez-Garay, M. L., Aldrich, M. B., Rasmussen, J. C., Guilliod, R., Lapinski, P. E., King, P. D., & Sevick-Muraca, E. M. (2016). A novel mutation in CELSR1 is associated with hereditary lymphedema. Vascular Cell, 8(1), [1]. https://doi.org/10.1186/s13221-016-0035-5

A novel mutation in CELSR1 is associated with hereditary lymphedema. / Gonzalez-Garay, M. L.; Aldrich, M. B.; Rasmussen, J. C.; Guilliod, R.; Lapinski, P. E.; King, P. D.; Sevick-Muraca, E. M.

In: Vascular Cell, Vol. 8, No. 1, 1, 05.02.2016.

Research output: Contribution to journalArticle

Gonzalez-Garay, ML, Aldrich, MB, Rasmussen, JC, Guilliod, R, Lapinski, PE, King, PD & Sevick-Muraca, EM 2016, 'A novel mutation in CELSR1 is associated with hereditary lymphedema', Vascular Cell, vol. 8, no. 1, 1. https://doi.org/10.1186/s13221-016-0035-5
Gonzalez-Garay ML, Aldrich MB, Rasmussen JC, Guilliod R, Lapinski PE, King PD et al. A novel mutation in CELSR1 is associated with hereditary lymphedema. Vascular Cell. 2016 Feb 5;8(1). 1. https://doi.org/10.1186/s13221-016-0035-5
Gonzalez-Garay, M. L. ; Aldrich, M. B. ; Rasmussen, J. C. ; Guilliod, R. ; Lapinski, P. E. ; King, P. D. ; Sevick-Muraca, E. M. / A novel mutation in CELSR1 is associated with hereditary lymphedema. In: Vascular Cell. 2016 ; Vol. 8, No. 1.
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