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

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.

• Authors: Salvatore Bellavia, Karin Dahan, Sara Terryn, Jean-Pierre Cosyns, Olivier Devuyst, Yves Pirson
• Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (Nephrol Dial Transplant) Vol. 25 Issue 12 Pg. 4097-102 (Dec 2010) ISSN: 1460-2385 [Electronic] England
• PMID: 20798123 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Adaptor Proteins, Signal Transducing
• Codon, Nonsense
• DVL1 protein, human
• Dishevelled Proteins
• INVS protein, human
• Phosphoproteins
• Transcription Factors
• Wnt Proteins
• beta Catenin

Topics

• Adaptor Proteins, Signal Transducing (metabolism)
• Adult
• Codon, Nonsense (genetics)
• Dishevelled Proteins
• Female
• Homozygote
• Humans
• Kidney (metabolism, pathology)
• Kidney Diseases, Cystic (congenital, genetics, surgery)
• Kidney Transplantation
• Male
• Pedigree
• Phosphoproteins (metabolism)
• Signal Transduction (physiology)
• Transcription Factors (genetics)
• Wnt Proteins (metabolism)
• beta Catenin (metabolism)