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SVEP1 IS IMPORTANT FOR MORPHOGENESIS OF LYMPHATIC SYSTEM: POSSIBLE IMPLICATIONS IN LYMPHEDEMA

S. Michelini, B. Amato, M. Ricci, R. Serrani, D. Veselenyiova, S. Kenanoglu, D. Kurti, A. Dautaj, M. Baglivo, R. Compagna, J. Krajcovic, M. Dundar, S.H. Basha, S. Priya, J.P. Belgrado, M. Bertelli

Abstract


SVEP1, also known as Polydom, is a
large extracellular mosaic protein with functions
in protein interactions and adhesion.
Since Svep1 knockout animals show severe
edema and lymphatic system malformations, the
aim of this study is to evaluate the presence of
SVEP1 variants in patients with lymphedema.
We analyzed DNA from 246 lymphedema
patients for variants in known lymphedema
genes, 235 of whom tested negative and underwent
a second testing for new candidate genes,
including SVEP1, as reported here. We found
three samples with rare heterozygous missense
single-nucleotide variants in the SVEP1 gene.
In one family, healthy members were found to
carry the same variants and reported some
subclinical edema. Based on our findings and a
review of the literature, we propose SVEP1 as a
candidate gene that should be sequenced in
patients with lymphatic malformations, with or
without lymphedema, in order to investigate
and add evidence on its possible involvement in
the development of lymphedema.


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