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

Hitoshi Okada, Takashi Kusaka, Noriko Fuke, Jun Kunikata, Sonoko Kondo, Takashi Iwase, Wang Nan, Takeshi Hirota, Ichiro Ieiri, Susumu Itoh

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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.

Original languageEnglish
Pages (from-to)e62-e64
JournalPediatrics International
Volume56
Issue number5
DOIs
Publication statusPublished - Oct 1 2014

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Okada, H., Kusaka, T., Fuke, N., Kunikata, J., Kondo, S., Iwase, T., ... Itoh, S. (2014). Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene. Pediatrics International, 56(5), e62-e64. https://doi.org/10.1111/ped.12404