Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.
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.
Kanda
Daisuke
D
Department of Gastroenterology and Hepatology, Saiseikai Maebashi Hospital, Gunma, Japan.
Takagi
Hitoshi
H
Kawahara
Yasutsugu
Y
Yata
Yutaka
Y
Takakusagi
Tomofumi
T
Hatanaka
Takeshi
T
Yoshinaga
Teruo
T
Iesaki
Keigo
K
Kashiwabara
Kenji
K
Higuchi
Tsugio
T
Mori
Masatomo
M
Hirota
Takeshi
T
Higuchi
Shun
S
Ieiri
Ichiro
I
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
D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human