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Article

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2008

Tonna Stephen, Wang Yan Yan, Wilson Diane, Rigby Lin, Tabone Tania, Cotton Richard, Savige Judy

Abstract excerpt

Thin-basement-membrane nephropathy (TBMN) is characterized by persistent dysmorphic hematuria, and the presence of proteinuria is a risk factor for renal impairment. TBMN is often due to mutations in the COL4A3 and COL4A4 genes, and this study determined whether additional mutations in genes encoding other structures in the glomerular filtration barrier contributed to the development of proteinuria. Fifty-six...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18726620
DOI: 10.1007/s00467-008-0934-7

Genes

NPHS2
ACTN4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.PMID 18726620Read ↗

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Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.Semantic proximity Read ↗

Thin basement membrane nephropathy.Semantic proximity Read ↗

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