Authors: , , ,


Primary lymphedema is clinically and genetically heterogeneous with germline mutations identified in approximately 20 primary lymphedema genes. The lymphatic vessel endothelial hyaluronan receptor-1 (LYVE-1) gene, also known as cell-surface retention sequence binding protein-1 (CRSBP-1), encodes the major hyaluronan receptor in lymphatic endothelia and is one of the most specific lymphatic vessel markers. However, the role of this lymphatic endothelial-specific protein in the development of the lymphatic system and lymphatic diseases remains unclear. Here, we report a missense mutation c.18C>G (p.S6R) in exon 1 within the N-terminal extension domain (outside the hyaluronan binding region) of LYVE-1 in three generations of an inherited lymphedema family with or without clinical symptoms. Lymphatic imaging revealed a partial, weak and delayed enhancement of tortuous lymph collectors in the distal part of the lymphedematous lower limb. Our findings revealed that LYVE-1/CRSBP-1 mutation in primary lymphedema cases is connected with both structural and functional lymphatic defects.

Keywords: primary lymphedema, LYVE- 1/CRSBP-1, gene mutation, whole-exome sequencing, lymphatic, ICG lymphography

How to Cite: Liu, N. , Yu, Z. , Luo, Y. & Sun, D. (2017) “A LYVE-1/CRSBP-1 MUTATION IN INHERITED PRIMARY LYMPHEDEMA”, Lymphology. 50(1).