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J Zhejiang Univ (Med Sci)
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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Abstract  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 after careful biochemical and radiological examinations. UGT1A1 * 28 and c.211G>A heterozygous mutations in UGT1A1 gene were found in this patient, indicating that the UGT1A1 * 28 and c.211G>A compound heterozygous mutations may be another type of mutation causing GS in Chinese population.

Key wordsGilbert disease/genetics      Uridine diphosphate/genetics      Glucuronosyl transferase/genetics      Genes      Mutation      Case reports     
Received: 14 October 2019      Published: 16 April 2020
CLC:  R575.5  
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), 0, 0(0): 9-0.

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报道一例UGT1A1基因存在复合杂合突变的吉尔伯特综合征病例。患儿自幼反复出现巩膜黄染,无其他自觉症状;血清胆红素水平升高,以非结合胆红素为主;排除胆道梗阻、溶血等其他引起黄疸的因素;基因检测发现患儿尿苷二磷酸葡糖苷酸转移酶1A1(UGT1A1)基因存在UGT1A1* 28和c.211G>A杂合突变。

关键词: 吉尔伯特病/遗传学,  尿苷二磷酸/遗传学,  葡萄糖醛酸基转移酶/遗传学,  基因,  突变,  病例报告 
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