A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway
(2010) Nephrology, Dialysis, Transplantation — Vol. 25, n° 12, p. 4097-4102 (2010)
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- 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 beta-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/beta-catenin pathway.
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Bellavia, S., Dahan, K., Terryn, S., Cosyns, J.-P., Devuyst, O., & Pirson, Y. (2010). A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. Nephrology, Dialysis, Transplantation, 25(12), 4097-4102. https://doi.org/10.1093/ndt/gfq519 (Original work published 2010)