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Article

PKD1 mosaicism associated with severe renal, hepatic, and vascular phenotype.

Clinical nephrology - 1 Dec 2022

Van Regemorter Elliott, Dahan Karin, Hougardy Charlotte, Ciccarelli Olga, Kanaan Nada, Pirson Yves, Demoulin Nathalie

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by mutations in PKD1 or PKD2 genes. Mosaicism is characterized by a post-zygotic mutation resulting in the presence of two or more populations of cells with different genotypes in an individual. Mosaicism of PKD1, rarely identified by conventional Sanger sequencing, is more easily detected using next generation sequencing techniques (NGS). PKD1...

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Identifiers

PMID: 36278297
DOI: 10.5414/CN110704

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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