BRIEF RESEARCH REPORT article
Front. Med.
Sec. Hepatobiliary Diseases
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1630360
Recurrent SLCO1B1 and SLCO1B3 Mutations Identified in Three Patients with Rotor Syndrome
Provisionally accepted
- 1Henan Provincial People's Hospital, Zhengzhou, China
- 2The Second Xiangya Hospital, Changsha, China
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Background: Rotor syndrome is a rare genetic disease, which is inherited in an autosomal digenic recessive manner. It is caused by pathogenic mutations in both SLCO1B1 and SLCO1B3 genes, and characterized by predominantly conjugated hyperbilirubinemia. Methods: Three Chinese patients clinically diagnosed with Rotor syndrome were included. Mutations in SLCO1B1/3 genes were identified using whole-exome sequencing.Results: They all carried the same homozygous c.1738C>T mutation in SLCO1B1 and c.481+22insLINE variant in SLCO1B3.This study established a genetic diagnosis for the three patients, and contributed to find hot-spot mutations in Rotor syndrome.
Keywords: Rotor syndrome, SLCO1B1, SLCO1B3, Mutation, Hyperbilirubinemia
Received: 17 May 2025; Accepted: 04 Aug 2025.
Copyright: © 2025 Zhao and Huang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Hui Huang, The Second Xiangya Hospital, Changsha, China
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