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Article

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

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2014

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

Abstract excerpt

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...

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Identifiers

PMID: 25336012
DOI: 10.1111/ped.12404

Genes

ABCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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