CASE REPORT article
Front. Med.
Sec. Hepatobiliary Diseases
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1581923
Identification of a Novel Pathogenic UGT1A1 Mutation in a Chinese Patient with Gilbert Syndrome
Provisionally accepted
Chenyu Zhao1,2*
Hui Huang1- 1Second Xiangya Hospital, Central South University, Changsha, China
- 2Department of Gastroenterology, Henan Provincial People’s Hospital, Zhengzhou, Henan Province, China
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Gilbert syndrome (GS) is a genetic disorder caused by mutations in the UGT1A1 gene. It is characterized by intermittent non-hemolytic unconjugated hyperbilirubinemia. Herein, we report a patient with GS who presented with chronic hyperbilirubinemia and no other abnormal manifestations. Heterozygous c.1047_1047delG, c.-3279 T>G and c.-41_-40dupTA mutations were identified in his UGT1A1 gene by using Sanger sequencing. The novel c.1047_1047delG variant was classified as a pathogenic mutation. These findings not only provide a basis for the genetic diagnosis of this GS patient but also expand the variant database of the UGT1A1 gene.
Keywords: Gilbert syndrome, UGT1A1, Mutation, Hyperbilirubinemia, Pathogenic
Received: 24 Feb 2025; Accepted: 23 Sep 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: Chenyu Zhao, chenyuzhao9305@zzu.edu.cn
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