title: Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.
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.
authors.affiliation: Department of Gastroenterology and Hepatology, Saiseikai Maebashi Hospital, Gunma, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kanda
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takagi
authors.forename: Yasutsugu
authors.initials: Y
authors.lastname: Kawahara
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Yata
authors.forename: Tomofumi
authors.initials: T
authors.lastname: Takakusagi
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hatanaka
authors.forename: Teruo
authors.initials: T
authors.lastname: Yoshinaga
authors.forename: Keigo
authors.initials: K
authors.lastname: Iesaki
authors.forename: Kenji
authors.initials: K
authors.lastname: Kashiwabara
authors.forename: Tsugio
authors.initials: T
authors.lastname: Higuchi
authors.forename: Masatomo
authors.initials: M
authors.lastname: Mori
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hirota
authors.forename: Shun
authors.initials: S
authors.lastname: Higuchi
authors.forename: Ichiro
authors.initials: I
authors.lastname: Ieiri
mesh_terms: D000368:Aged; D001483:Base Sequence; D005260:Female; D006801:Humans; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D008969:Molecular Sequence Data; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion
chemical_list: D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human