Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene

Pediatr Int. 2014 Oct;56(5):e62-4. doi: 10.1111/ped.12404.

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.

Keywords: Dubin-Johnson syndrome; conjugated bilirubin; neonate.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Jaundice, Chronic Idiopathic / genetics*
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation*

Substances

  • ABCC2 protein, human
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins