| Title: |
SVEP1 IS IMPORTANT FOR MORPHOGENESIS OF LYMPHATIC SYSTEM: POSSIBLE IMPLICATIONS IN LYMPHEDEMA |
| Authors: |
Michelini, S.; Amato, B.; Ricci, M.; Serrani, R.; Veselenyiova, D.; Kenanoglu, S.; Kurti, D.; Dautaj, A.; Baglivo, M.; Compagna, R.; Krajcovic, J.; Dundar, M.; Basha, S.H.; Priya, S.; Belgrado, J.P.; Bertelli, M. |
| Source: |
Lymphology; Vol 54, No 1 (2021); 12-22 ; 2522-7963 ; 00247766 |
| Publisher Information: |
International Society of Lymphology |
| Publication Year: |
2021 |
| Description: |
SVEP1, also known as Polydom, is alarge extracellular mosaic protein with functionsin protein interactions and adhesion.Since Svep1 knockout animals show severeedema and lymphatic system malformations, theaim of this study is to evaluate the presence ofSVEP1 variants in patients with lymphedema.We analyzed DNA from 246 lymphedemapatients for variants in known lymphedemagenes, 235 of whom tested negative and underwenta second testing for new candidate genes,including SVEP1, as reported here. We foundthree samples with rare heterozygous missensesingle-nucleotide variants in the SVEP1 gene.In one family, healthy members were found tocarry the same variants and reported somesubclinical edema. Based on our findings and areview of the literature, we propose SVEP1 as acandidate gene that should be sequenced inpatients with lymphatic malformations, with orwithout lymphedema, in order to investigateand add evidence on its possible involvement inthe development of lymphedema. |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://journals.uair.arizona.edu/index.php/lymph/article/view/23965/22543; https://journals.uair.arizona.edu/index.php/lymph/article/view/23965 |
| Availability: |
https://journals.uair.arizona.edu/index.php/lymph/article/view/23965 |
| Rights: |
Copyright (c) 2021 Lymphology |
| Accession Number: |
edsbas.750782B5 |
| Database: |
BASE |