Novel large-scale deletion (whole Exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome

Daisuke Kanda, Hitoshi Takagi, Yasutsugu Kawahara, Yutaka Yata, Tomofumi Takakusagi, Takeshi Hatanaka, Teruo Yoshinaga, Keigo Iesaki, Kenji Kashiwabara, Tsugio Higuchi, Masatomo Mori, Takeshi Hirota, Shun Higuchi, Ichiro Ieiri

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)464-468
Number of pages5
JournalDrug metabolism and pharmacokinetics
Issue number5
Publication statusPublished - 2009

All Science Journal Classification (ASJC) codes

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)


Dive into the research topics of 'Novel large-scale deletion (whole Exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome'. Together they form a unique fingerprint.

Cite this