Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
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Okada H, Kusaka T, Fuke N, Kunikata J, Kondo S, Iwase T, Nan W, Hirota T, Ieiri I, Itoh S
Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
Pediatr Int. 2014 Oct;56(5):e62-4. doi: 10.1111/ped.12404.
- PubMed ID
- 25336012 [ View in PubMed]
- 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.