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Article

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Clinical genetics - 1 Apr 2024

Riedhammer Korbinian M, Simmendinger Hannes, Tasic Velibor, Putnik Jovana, Abazi-Emini Nora, Stajic Natasa, Berutti Riccardo, Weidenbusch Marc, Patzer Ludwig, Lungu Adrian, Milosevski-Lomic Gordana, Günthner Roman, Braunisch Matthias C, Ćomić Jasmina, Hoefele Julia

Abstract excerpt

Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and biallelic variants with autosomal recessive AS (ARAS). The aim of this study was to analyze clinical and genetic data regarding a possible genotype-phenotype...

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Identifiers

PMID: 38214412
DOI: 10.1111/cge.14471

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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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