ArticleOrphanet journal of rare diseases2020
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 23 citations in OpenAlex.
- Dynamic landmark models predicting native liver survival after kasai portoenterostomy: a bicentric study.Pediatric surgery international · 2026Article
- Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).Journal of clinical and translational hepatology · 2026Article
- Decarboxylase mediated oxalic acid metabolism is important to antioxidation and detoxification rather than pathogenicity inVirulence · 2025Article
- [Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome.BMC medical genomics · 2025Article
- An Incidental Finding of an Indigo-Blue Liver in a Patient With Dubin-Johnson Syndrome Confirmed via Genetic Testing.Cureus · 2025Article
- RecombinantPathogens (Basel, Switzerland) · 2024Article
- Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review.Journal of clinical and translational hepatology · 2024Review
- ABCC2 p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation.eGastroenterology · 2024Article
- Progress and challenges of multidrug resistance proteins in diseases.American journal of cancer research · 2022Review
- Literature review and report of three cases of Dubin-Johnson syndrome related to ABCC2 gene mutations in children.American journal of translational research · 2021Article
- When Birth Control Turns Biliary: A Rare Case of Profound Hyperbilirubinemia From Oral Contraceptives.Journal of investigative medicine high impact case reportsArticle
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11 authors at 1 institution in 1 country.
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Abstract
backgroundDubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by pathogenic mutations in the adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2) gene, which encodes multidrug resistance-associated protein 2 (MRP2). However, little is known about the causative mutation of DJS in China. Recently, we have reported ABCC2 p.G693R mutation in two unrelated cases. In the present study, we investigated the pathogenicity of the ABCC2 p.G693R mutation in DJS in China.
methodsClinical and genetic analysis was conducted for the two patients with the ABCC2 p.G693R mutation. Whole exome sequencing for mutations in other known hyperbilirubinemia-related genes was conducted for the cases with ABCC2 p.G693R. Expression and cellular localization of the mutant MRP2 p.G693R were analyzed by Western blotting and immunofluorescence assay, respectively. Organic anion transport activity was evaluated by the analysis of glutathione-conjugated-monochlorobimane.
resultsThe two DJS patients with ABCC2 p.G693R mutation, which was conserved among different species, showed typical hyperbilirubinemia phenotype. No pathogenic mutation was identified in the other known hyperbilirubinemia related genes. Functional studies in three cell lines showed that the expression, localization and the organic anion transport activity were significantly compromised by MRP2 p.G693R mutation compared with wild-type MRP2.
conclusionsThe recurrent ABCC2 p.G693R mutation is associated with loss of function of the MRP2 protein and may result in hyperbilirubinemia in DJS in China.
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