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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing / metabolism
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Adult
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Codon, Nonsense / genetics*
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Dishevelled Proteins
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Female
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Homozygote*
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Humans
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Kidney / metabolism
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Kidney / pathology
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Kidney Diseases, Cystic / congenital
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Kidney Diseases, Cystic / genetics
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Kidney Diseases, Cystic / surgery
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Kidney Transplantation
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Male
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Pedigree
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Phosphoproteins / metabolism
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Signal Transduction / physiology*
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Transcription Factors / genetics*
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Wnt Proteins / metabolism*
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beta Catenin / metabolism*
Substances
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Adaptor Proteins, Signal Transducing
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Codon, Nonsense
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DVL1 protein, human
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Dishevelled Proteins
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INVS protein, human
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Phosphoproteins
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Transcription Factors
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Wnt Proteins
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beta Catenin
Supplementary concepts
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Nephronophthisis, familial juvenile