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

## TL;DR

A new harmful mutation in the UGT1A1 gene was found in a Chinese patient with Gilbert syndrome, helping with diagnosis and expanding genetic knowledge.

## Contribution

A novel pathogenic UGT1A1 mutation (c.1047_1047delG) was identified and classified in a Chinese GS patient.

## Key findings

- A novel c.1047_1047delG mutation in UGT1A1 was found in a patient with Gilbert syndrome.
- The mutation was classified as pathogenic and contributes to the genetic diagnosis of GS.
- The findings expand the known variant database for the UGT1A1 gene.

## Abstract

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.