{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T03:04:53Z","timestamp":1790305493516,"version":"4.1.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Gilbert syndrome (GS) is a genetic disorder caused by mutations in the <jats:italic>UGT1A1<\/jats:italic> 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&amp;gt;G, and c.-41_-40dupTA mutations were identified in his <jats:italic>UGT1A1<\/jats:italic> 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 <jats:italic>UGT1A1<\/jats:italic> gene.<\/jats:p>","DOI":"10.3389\/fmed.2025.1581923","type":"journal-article","created":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T05:42:57Z","timestamp":1760506977000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Identification of a novel pathogenic UGT1A1 mutation in a Chinese patient with Gilbert syndrome"],"prefix":"10.3389","volume":"12","author":[{"given":"Chenyu","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,10,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"12709","DOI":"10.3390\/ijms232012709","article-title":"The mutation hotspots at UGT1A locus may be associated with Gilbert's syndrome affecting the Taiwanese population","volume":"23","author":"Hsu","year":"2022","journal-title":"Int J Mol Sci"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1038\/pr.2015.247","article-title":"Inherited disorders of bilirubin clearance","volume":"79","author":"Memon","year":"2016","journal-title":"Pediatr 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variants in Chilean adolescents","volume":"15","author":"Miranda","year":"2024","journal-title":"Front Genet"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1006\/bbrc.2002.6683","article-title":"Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia","volume":"292","author":"Sugatani","year":"2002","journal-title":"Biochem Biophys Res Commun"}],"container-title":["Frontiers in 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