Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.
Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia and caused by mutations of the ATP-binding cassette (ABC) transporter encoding gene MRP2/cMOAT/ABCC2. Previous studies reported on mutations in DJS patients and polymorphisms in healthy human individuals. The genomic DNA sequence of a female Caucasian DJS patient was analyzed by DNA sequencing and revealed the identification of a homozygous missense mutation C2302T. This DJS-causing alteration results in an amino acid exchange Arg768Trp.
Materna
Verena
V
Institute of Pathology, Charité Campus Mitte, Humboldt University Berlin, Schumannstr. 20/21, 10117, Berlin, Germany.
Lage
Hermann
H
Institute of Pathology, Charité Campus Mitte, Humboldt University Berlin, Schumannstr. 20/21, 10117, Berlin, Germany. hermann.lage@charite.de.
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D018432:Drug Resistance, Multiple / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D006932:Hyperbilirubinemia / Q000235:genetics; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D026901:Membrane Transport Proteins; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D044465:White People
D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D026901:Membrane Transport Proteins; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human