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

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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.
日本遺伝学会の論文
2002-04-01