A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome

Genes Genet Syst. 2002 Apr;77(2):117-21. doi: 10.1266/ggs.77.117.

Abstract

Dubin-Johnson syndrome (DJS) is an inherited disorder characterized by conjugated hyperbilirubinemia and is caused by mutations of the canalicular multispecific organic anion transporter (cMOAT)/ multidrug resistance protein 2 (MRP2)/ ATP-binding cassette, sub-family C, member 2 (ABCC2) gene. The ABCC2 protein is located in the apical membrane of hepatocytes, and known mutations of this gene cause impaired maturation and trafficking of the mutated protein from the endoplasmic reticulum (ER) to the Golgi complex. We have characterized the ABCC2 gene in a Japanese DJS patient by polymerase chain reaction and DNA sequencing, resulting in the identification of two mutations. One mutation, 1815+2 (T>A) in the splice donor site of intron 13, has already been reported. However, we have identified a novel nonsense mutation consisting of a (C>T) transition at nucleotide 3928 in exon 28.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Adolescent
  • Base Sequence
  • Biopsy
  • Codon, Nonsense*
  • DNA / genetics
  • Exons
  • Female
  • Humans
  • Japan
  • Jaundice, Chronic Idiopathic / genetics*
  • Jaundice, Chronic Idiopathic / metabolism
  • Jaundice, Chronic Idiopathic / pathology
  • Liver / metabolism
  • Liver / pathology
  • Membrane Transport Proteins*
  • Multidrug Resistance-Associated Proteins / genetics*
  • RNA Splicing

Substances

  • ATP-Binding Cassette Transporters
  • Codon, Nonsense
  • Membrane Transport Proteins
  • Multidrug Resistance-Associated Proteins
  • multidrug resistance-associated protein 2
  • DNA
  • multidrug resistance-associated protein 1