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

Okada H., Kusaka T., Fuke N., Kunikata J., Kondo S., Iwase T., Nan W., Hirota T., Ieiri I., Itoh S.

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.

Pediatr. Int. 56:E62-E62(2014) [PubMed] [Europe PMC]