Drug Metabolism and Pharmacokinetics
Online ISSN : 1880-0920
Print ISSN : 1347-4367
ISSN-L : 1347-4367
SNP Communications
Novel Large-scale Deletion (whole Exon 7) in the ABCC2 Gene in a Patient with the Dubin-Johnson Syndrome
Daisuke KANDAHitoshi TAKAGIYasutsugu KAWAHARAYutaka YATATomofumi TAKAKUSAGITakeshi HATANAKATeruo YOSHINAGAKeigo IESAKIKenji KASHIWABARATsugio HIGUCHIMasatomo MORITakeshi HIROTAShun HIGUCHIIchiro IEIRI
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2009 Volume 24 Issue 5 Pages 464-468

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Abstract

  The Dubin-Johnson syndrome (DJS) is an inherited liver disorder characterized by conjugated hyperbilirubinemia and caused by ABCC2 gene mutations resulting in deficiency of multidrug resistance associated-protein 2 (MRP2) function. A 76-year-old woman with serious jaundice was referred to our hospital. She was clinically diagnosed with DJS with hepatic congestion, due to constrictive pericarditis. We analyzed all exons and exon-intron junctions of the ABCC2 gene by DNA sequencing and identified a new large-scale deletion, 1008 bp, including the whole exon 7, as homozygosity. Some mutations in the ABCC2 gene associated with splicing errors have been reported in intronic regions; however, this is a new type of large-scale deletion detectable in the genomic DNA sequence. Severe hyperbilirubinemia is rare in patients with constrictive pericarditis and this case suggests that MRP2 may play a crucial role in compensating for the serum bilirubin in congestive hepatopathy.

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© 2009 by The Japanese Society for the Study of Xenobiotics
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