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Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Nephron - 1 Jan 2024

Orisio Silvia, Noris Marina, Rigoldi Miriam, Bresin Elena, Perico Norberto, Trillini Matias, Donadelli Roberta, Perna Annalisa, Benigni Ariela, Remuzzi Giuseppe

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited disease of the kidney. It occurs in adulthood but is also rarely diagnosed in early childhood. The majority of the disease-causing variants observed in ADPKD patients are in two genes: PKD1 and PKD2. METHODS: 237 patients from 198 families with a clinical diagnosis of ADPKD were screened for PKD1 and PKD2 genetic...

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PMID: 37231942
DOI: 10.1159/000530657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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