Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report

doi:10.4254/wjh.121392

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World Journal of Hepatology

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1948-5182

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Hepatol. Jun 27, 2026; 18(6): 121392
Published online Jun 27, 2026. doi: 10.4254/wjh.121392

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Figure 1 Two-site mutations in the ATP8B1 gene. Sequencing chromatograms showing compound heterozygous ATP8B1 variants. A: c.1214_1215delAT (p.Y405Cfs*24) of maternal origin; B: c.3015G>A (p.Q1005Q) of paternal origin.

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Figure 2 Two mutational outcomes of the c. 3015G>A locus. Minigene splicing assay of the c.3015G>A variant. The mutant minigene produced two transcripts, MT-A and MT-B. MT-A exhibited complete skipping of exon 24.

Citation: Zuo J, Wang LY, Fan YC. Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report. World J Hepatol 2026; 18(6): 121392
URL: https://www.wjgnet.com/1948-5182/full/v18/i6/121392.htm
DOI: https://dx.doi.org/10.4254/wjh.121392

Zuo J, Wang LY, Fan YC. Recurrent pruritus, jaundice, and pancreatitis in an adult due to a rare etiology: A case report. World J Hepatol 2026; 18(6): 121392 [DOI: 10.4254/wjh.121392]

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