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

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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.

Original languageEnglish
Pages (from-to)464-468
Number of pages5
JournalDrug metabolism and pharmacokinetics
Volume24
Issue number5
DOIs
Publication statusPublished - Jan 1 2009

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All Science Journal Classification (ASJC) codes

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

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