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Updated: May 17, 2026

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Published on: August 20, 2019
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes
Manjit S Devgun1, Adil M El-Nujumi, Geraldine J O'Dowd
1Department of Biochemistry, Wishaw General Hospital, 50 Netherton Street, Wishaw, Lanarkshire ML2 0DP, UK. manjit.devgun@lanarkshire.scot.nhs.uk
Abstract:
A patient with sepsis and jaundice was admitted for diagnosis and treatment. Associated biochemical changes included increased C-reactive protein, conjugated bilirubin and gamma-glutamyltransferase, the duration of which was protracted. High urine coproporphyrin isomer-1 and immunostaining of liver tissue suggested Dubin-Johnson syndrome. DNA sequencing using polymerase chain reaction amplification of the ABCC2 gene revealed the patient to have a compound heterozygous variant of MRP2, a molecule involved in canalicular transport of bilirubin. There was a history of jaundice since infancy.
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