Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes.
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.
Department of Biochemistry, Wishaw General Hospital, 50 Netherton Street, Wishaw, Lanarkshire ML2 0DP, UK. manjit.devgun@lanarkshire.scot.nhs.uk
Manjit S
MS
Devgun
Adil M
AM
El-Nujumi
Geraldine J
GJ
O'Dowd
Véronique
V
Barbu
Raoul
R
Poupon
D006801:Humans; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation
D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human