Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant.
Fiche publication
Date publication
mars 2021
Journal
Molecular genetics & genomic medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr BAHRAM Siamak, Dr CARAPITO Raphaël, Dr GACHET Christian
Tous les auteurs :
Marx D, Caillard S, Olagne J, Moulin B, Hannedouche T, Touchard G, Dupuis A, Gachet C, Molitor A, Bahram S, Carapito R
Lien Pubmed
Résumé
Podocalyxin (PODXL) is a highly sialylated adhesion glycoprotein that plays an important role in podocyte's physiology. Recently, missense and nonsense dominant variants in the PODXL gene have been associated with focal segmental glomerulosclerosis (FSGS), a leading cause of nephrotic syndrome and kidney failure. Their histologic description, however, was superficial or absent.
Mots clés
PODXL , exome sequencing, focal segmental glomerulosclerosis, glomerular basement membrane duplication, membranoproliferative glomerulonephritis, podocalyxin
Référence
Mol Genet Genomic Med. 2021 Mar 29;:e1658