ABCMdb

PMID: 12942343

Materna V, Lage H
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.
J Hum Genet. 2003;48(9):484-6. Epub 2003 Aug 27., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCC2 p.Arg768Trp SHORT COMMUNICATION Homozygous mutation Arg768 Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient Received: 15 May 2003 / Accepted: 1 July 2003 / Published online: 27 August 2003 Ó The Japan Society of Human Genetics and Springer-Verlag 2003 Abstract 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. Login to comment 3 ABCC2 p.Arg768Trp This DJS-causing alteration results in an amino acid exchange Arg768Trp. Login to comment 27 ABCC2 p.Arg768Trp The only alteration found was the missense mutation C2302T causing an amino acid exchange Arg768Trp indicating to be the molecular basis for DJS in this Turkish patient. Login to comment 33 ABCC2 p.Arg768Trp It was reported that the amino acid exchange Arg768Trp causes a deficient maturation of the ABCC2 protein leading to a diminished glycosylation, impaired sorting to the apical membrane, and degradation via the proteasome pathway (Hashimoto et al. 2002). Login to comment 34 ABCC2 p.Arg768Trp These results support our findings that the missense mutation Arg768Trp alone is responsible for the defect in transporting bilirubin conjugates, leading to hyperbilirubinemia in the context of DJS in the examined patient. Login to comment 48 ABCC2 p.Arg768Trp Conclusions The homozygous missense mutation C2302T causing the amino acid exchange Arg768Trp is the molecular reason for DJS in a female Caucasian patient examined. Login to comment