A LYVE-1/CRSBP-1 MUTATION IN INHERITED PRIMARY LYMPHEDEMA

NF Liu, Z Yu, Y Luo, D Sun

Abstract


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 endothelialspecific
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.


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