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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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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Chronic Idiopathic Jaundice
Bilirubin
Mutation
Missense Mutation
Genes
Exons
Hyperbilirubinemia
Adenosine Triphosphate
Serum

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

Neonatal Dubin-Johnson syndrome : Novel compound heterozygous mutation in the ABCC2 gene. / Okada, Hitoshi; Kusaka, Takashi; Fuke, Noriko; Kunikata, Jun; Kondo, Sonoko; Iwase, Takashi; Nan, Wang; Hirota, Takeshi; Ieiri, Ichiro; Itoh, Susumu.

In: Pediatrics International, Vol. 56, No. 5, 01.10.2014, p. e62-e64.

Research output: Contribution to journalArticle

Okada, H, Kusaka, T, Fuke, N, Kunikata, J, Kondo, S, Iwase, T, Nan, W, Hirota, T, Ieiri, I & Itoh, S 2014, 'Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene', Pediatrics International, vol. 56, no. 5, pp. e62-e64. https://doi.org/10.1111/ped.12404
Okada, Hitoshi ; Kusaka, Takashi ; Fuke, Noriko ; Kunikata, Jun ; Kondo, Sonoko ; Iwase, Takashi ; Nan, Wang ; Hirota, Takeshi ; Ieiri, Ichiro ; Itoh, Susumu. / Neonatal Dubin-Johnson syndrome : Novel compound heterozygous mutation in the ABCC2 gene. In: Pediatrics International. 2014 ; Vol. 56, No. 5. pp. e62-e64.
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AU - Iwase, Takashi

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