A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease

Ginevra Urbani; Maria Antonella Burza; Johan Waern; Henrik Arnell; Pol Solé-Navais; Antonio Molinaro

doi:10.1080/00365521.2026.2624018

February 2, 2026Scandinavian Journal of Gastroenterology

A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease

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Key Points

The research aims to identify and characterize a novel mutation in the ABCC2 gene related to Dubin-Johnson Syndrome and hyperbilirubinemia.
Genetic analysis was performed to identify mutations in the ABCC2 gene.
Clinical evaluation was conducted for patients exhibiting symptoms of hyperbilirubinemia and fatty liver disease.
Assessment of the association between the identified mutation and clinical manifestations.
A novel pathogenic variant in the ABCC2 gene was identified.
The mutation was linked with symptoms of hyperbilirubinemia and fatty liver disease.
Findings expand the known spectrum of ABCC2 mutations associated with Dubin-Johnson Syndrome.

Implication

Case report identifies a novel ABCC2 variant linked to hyperbilirubinemia, highlighting genetic testing's role in diagnosis.

Abstract

We describe a novel ABCC2 mutation associated with Dubin-Johnson Syndrome. This finding expands the spectrum of ABCC2 variants to evaluate in case of hyperbilirubinemia and highlights the importance of genetic testing in unexplained cases of conjugated hyperbilirubinemia.

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Cite This Study

Urbani et al. (2026) studied this question.

synapsesocial.com/papers/698433d8f1d9ada3c1fb1445 https://doi.org/10.1080/00365521.2026.2624018

View at Publisher

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A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease

Key Points

Implication

Abstract

Discussion

Cite This Study

A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease

Key Points

Implication

Abstract

Discussion

Cite This Study

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