A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

doi:10.1038/s41431-025-01910-0

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Article

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

European journal of human genetics : EJHG - 1 Oct 2025

White Susan M, Wondergem Annelotte P, Breet Isa, Dittmaier Maren, Bell Katrina, Richmond Christopher M, Hardikar Winita, Bhatia Kanika, Quinlan Catherine, Orchard David, D'Souza Areetha, Chazin Walter J, Smith Christopher, Sparkes Rebecca, Lam Simon, Carter Alexandra, Hopkin Robert J, Khendek Leticia, Sullivan Bonnie R, Becher Naja, Simonsen Anne Katrine W, Kvistgaard Helene, Dempsey Katherine, Miethke Alexander G, Gregersen Pernille Axél, Phillips Eliza, Luijsterburg Martijn S

Abstract excerpt

DNA repair disorders are a group of conditions characterized by progressive, multisystem phenotypes. Defining new clinical presentations of these disorders is essential for optimizing patient care. ERCC1-XPF is a multifunctional endonuclease involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair. We sought to define a novel multisystem phenotype associated with biallelic ERCC1...

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PMID: 40684071
DOI: 10.1038/s41431-025-01910-0
PMCID: PMC12480883

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ERCC1

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