Case Report: Identification of a novel pathogenic UGT1A1 mutation in a Chinese patient with Gilbert syndrome

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.