These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
    Author: Okada H, Kusaka T, Fuke N, Kunikata J, Kondo S, Iwase T, Nan W, Hirota T, Ieiri I, Itoh S.
    Journal: Pediatr Int; 2014 Oct; 56(5):e62-4. PubMed ID: 25336012.
    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.
    [Abstract] [Full Text] [Related] [New Search]