A novel mutation in CELSR1 is associated with hereditary lymphedema.

摘要: Biological evidence reported in the literature supports role of CELSR1 as being essential for valvular function murine lymphatics. Yet thus far, there have been no variants associated with lymphatic dysfunction humans. In this report, a rare early inactivating mutation is found to be causal non-syndromic, lower extremity lymphedema family across three generations. Near-infrared fluorescence imaging shows that instead propelled within lumen well-defined vessels, lymph moved regions both legs an unusual fashion and sheet-like structures. CELSRI may responsible primary, non-syndromic