Journal Article

A homozygous mutation in <i>INVS</i> causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

Salvatore Bellavia, Karin Dahan, Sara Terryn, Jean-Pierre Cosyns, Olivier Devuyst and Yves Pirson

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 25, issue 12, pages 4097-4102
Published in print December 2010 | ISSN: 0931-0509
Published online August 2010 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfq519
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway

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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.

Keywords: inversin; nephronophthisis; NPHP2 disease; Wnt/beta-catenin pathway

Journal Article.  3005 words.  Illustrated.

Subjects: Nephrology

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