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Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.

Genes - 6 Aug 2023

Graziani Ludovico, Zampatti Stefania, Carriero Miriam Lucia, Minotti Chiara, Peconi Cristina, Bengala Mario, Giardina Emiliano, Novelli Giuseppe

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disease, and it is typically caused by PKD1 and PKD2 heterozygous variants. Nonetheless, the extensive phenotypic variability observed among affected individuals, even within the same family, suggests a more complex pattern of inheritance. We describe an ADPKD family in which the proband presented with an earlier and more...

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Identifiers

PMID: 37628640
DOI: 10.3390/genes14081589
PMCID: PMC10454652

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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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