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J Zhejiang Univ (Med Sci)  2020, Vol. 49 Issue (3): 406-409    DOI: 10.3785/j.issn.1008-9292.2020.04.13
A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations
OU Weijie(),LIN Su,WU Yilong,ZHU Yueyong*()
Liver Research Center, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China
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A case of Gilbert syndrome (GS) with a heterozygous mutation in the UGT1A1 gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. UGT1A1*28 and c.211G>A heterozygous mutations in UGT1A1 gene were found, which may be another type of mutation causing GS in Chinese population.

Key wordsGilbert disease      Uridine diphosphate      Glucuronosyl transferase      Genes      Mutation      Case reports     
Received: 14 October 2019      Published: 16 April 2020
CLC:  R575.5  
Corresponding Authors: ZHU Yueyong     E-mail:;
Cite this article:

OU Weijie,LIN Su,WU Yilong,ZHU Yueyong. A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations. J Zhejiang Univ (Med Sci), 2020, 49(3): 406-409.

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关键词: 吉尔伯特病,  尿苷二磷酸,  葡萄糖醛酸基转移酶,  基因,  突变,  病例报告 
Fig 1 The pedigree of patient with UGT1A1 gene heterozygous mutation (UGT1A1*28; c.211G>A)
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