title: Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
abstract: Dubin-Johnson syndrome (DJS) is an autosomal recessive inherited disorder characterized by conjugated hyperbilirubinemia. Neonatal-onset DJS is rare. It is caused by dysfunction of adenosine triphosphate-binding cassette, sub-family C, member 2 (ABCC2). We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18. Serum diglucuronosyl bilirubin/monoglucuronosyl bilirubin ratio was high. ABCC2 may excrete diglucuronosyl bilirubin preferentially over monoglucuronosyl bilirubin.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Okada
authors.forename: Takashi
authors.initials: T
authors.lastname: Kusaka
authors.forename: Noriko
authors.initials: N
authors.lastname: Fuke
authors.forename: Jun
authors.initials: J
authors.lastname: Kunikata
authors.forename: Sonoko
authors.initials: S
authors.lastname: Kondo
authors.forename: Takashi
authors.initials: T
authors.lastname: Iwase
authors.forename: Wang
authors.initials: W
authors.lastname: Nan
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hirota
authors.forename: Ichiro
authors.initials: I
authors.lastname: Ieiri
authors.forename: Susumu
authors.initials: S
authors.lastname: Itoh
mesh_terms: D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007566:Jaundice, Chronic Idiopathic / Q000235:genetics*; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human
keywords: Dubin-Johnson syndrome; conjugated bilirubin; neonate