TY - JOUR
T1 - Novel large-scale deletion (whole Exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome
AU - Kanda, Daisuke
AU - Takagi, Hitoshi
AU - Kawahara, Yasutsugu
AU - Yata, Yutaka
AU - Takakusagi, Tomofumi
AU - Hatanaka, Takeshi
AU - Yoshinaga, Teruo
AU - Iesaki, Keigo
AU - Kashiwabara, Kenji
AU - Higuchi, Tsugio
AU - Mori, Masatomo
AU - Hirota, Takeshi
AU - Higuchi, Shun
AU - Ieiri, Ichiro
N1 - Funding Information:
Received; March 3, 2009, Accepted; May 21, 2009 *To whom correspondence should be addressed: Ichiro IEIRI, PhD., Department of Clinical Pharmacokinetics, Graduate School of Pharmaceutical Sciences, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. Tel. ＋81 92 642 6657, Fax. ＋81 92 642 6660, E-mail: ieiri-ttr＠umin.ac.jp This paper was supported by grants from the Ministry of Education, Culture, Sports, Science and Technology, Japan. On March 4th, 2009, the novel variation described in this paper was not found in the National Center for Biotechnology Information (http: /www.ncbi.nlm.nih.gov/SNP/) or Japanese Single Nucleotide Polymorphisms (http: /snp.ims.u-tokyo.ac.jp/).
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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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U2 - 10.2133/dmpk.24.464
DO - 10.2133/dmpk.24.464
M3 - Article
C2 - 19881259
AN - SCOPUS:71449126495
SN - 1347-4367
VL - 24
SP - 464
EP - 468
JO - Drug metabolism and pharmacokinetics
JF - Drug metabolism and pharmacokinetics
IS - 5
ER -