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- Title
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
- Authors
Bellavia, Salvatore; Dahan, Karin; Terryn, Sara; Cosyns, Jean-Pierre; Devuyst, Olivier; Pirson, Yves
- Abstract
Mutations in the INVS gene coding for inversin have been identified in patients with nephronophthisis type 2 (NPHP2), typically causing infantile onset of ESRD and potentially associated with situs inversus. We report a novel family with a homozygous INVS mutation (c.2695 C > T; p.Arg899X) deleting the C-terminus of inversin. Both affected patients had juvenile ESRD and were discordant for situs inversus. The end-stage kidneys showed chronic interstitial nephritis with cysts and abnormal expression of β-catenin and Dishevelled-1 supporting up-regulated canonical Wnt pathway in tubular cells. This case shows that INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/β-catenin pathway.
- Subjects
GENETIC mutation; INFANTILE amnesia; SITUS inversus; KIDNEY diseases; INTERSTITIAL nephritis; CYSTS (Pathology); GENETIC disorders; PATIENTS
- Publication
Nephrology Dialysis Transplantation, 2010, Vol 25, Issue 12, p4097
- ISSN
0931-0509
- Publication type
Article
- DOI
10.1093/ndt/gfq519