title: A novel mutation in CELSR1 is associated with hereditary lymphedema.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  CELSRI may be responsible for primary, non-syndromic lymphedema in humans.
authors: Center 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.
authors: M L
authors: ML
authors: Gonzalez-Garay
authors: Center 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.
authors: M B
authors: MB
authors: Aldrich
authors: Center 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.
authors: J C
authors: JC
authors: Rasmussen
authors: Memorial Herman Hospital and The University of Texas Health Science Center, Houston, TX 77030 USA.
authors: R
authors: R
authors: Guilliod
authors: Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI 48109 USA.
authors: P E
authors: PE
authors: Lapinski
authors: Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI 48109 USA.
authors: P D
authors: PD
authors: King
authors: Center 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.
authors: E M
authors: EM
authors: Sevick-Muraca
keywords: Near-infrared fluorescence imaging CELSR1; Planar polarity; Primary lymphedema; Whole exome sequencing