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

被引：24

作者：

Bellavia, Salvatore ^{[1
]}

Dahan, Karin ^{[2
]}

Terryn, Sara ^{[1
]}

Cosyns, Jean-Pierre ^{[3
]}

Devuyst, Olivier ^{[1
]}

Pirson, Yves ^{[1
]}

机构：

[1] Catholic Univ Louvain, Div Nephrol, Clin Univ St Luc, B-1200 Brussels, Belgium

[2] Catholic Univ Louvain, Human Genet Unit, Clin Univ St Luc, B-1200 Brussels, Belgium

[3] Catholic Univ Louvain, Div Pathol, Clin Univ St Luc, B-1200 Brussels, Belgium

来源：

NEPHROLOGY DIALYSIS TRANSPLANTATION | 2010年 / 25卷 / 12期

关键词：

inversin; nephronophthisis; NPHP2; disease; Wnt/beta-catenin pathway; CILIOPATHIES; SYMMETRY; INVERSIN;

D O I：

10.1093/ndt/gfq519

中图分类号：

R3 [基础医学]; R4 [临床医学];

学科分类号：

1001 ; 1002 ; 100602 ;

摘要：

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.

引用

页码：4097 / 4102

页数：6

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