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Article

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Genes - 4 Feb 2025

Halat-Wolska Paulina, Ciara Elżbieta, Pac Michał, Obrycki Łukasz, Wicher Dorota, Iwanicka-Pronicka Katarzyna, Bielska Ewelina, Chałupczyńska Beata, Siestrzykowska Dorota, Kostrzewa Grażyna, Stawiński Piotr, Płoski Rafał, Litwin Mieczysław, Chrzanowska Krystyna

Abstract excerpt

Background: Alport syndrome (AS) is a clinically and genetically heterogeneous glomerulopathy resulting from pathogenic variants in COL4A3, COL4A4, and COL4A5. Genetic diagnosis is increasingly being conducted using next-generation sequencing (NGS). Methods: Within eight years, we examined a group of 247 Polish individuals and found in total 138 unrelated probands suspected with AS based on clinical course,...

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Identifiers

PMID: 40004525
DOI: 10.3390/genes16020196
PMCID: PMC11855357

Genes

COL4A5
COL4A3
COL4A4

Variants

Provenance

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Related research

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Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.PMID 40004525Read ↗

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