Literature DB >> 32762156

[A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations].

Weijie Ou1, Su Lin1, Yilong Wu1, Yueyong Zhu1.   

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. 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.

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Year:  2020        PMID： 32762156      PMCID： PMC8800809          DOI： 10.3785/j.issn.1008-9292.2020.04.13

Source DB:  PubMed          Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban        ISSN： 1008-9292


  16 in total

Review 1.  Gilbert syndrome.

Authors:  Andrew Fretzayas; Maria Moustaki; Olga Liapi; Themistocles Karpathios
Journal:  Eur J Pediatr       Date:  2011-12-09       Impact factor: 3.183

Review 2.  Gilbert's syndrome: an overview for clinical biochemists.

Authors:  G M Hirschfield; G J Alexander
Journal:  Ann Clin Biochem       Date:  2006-09       Impact factor: 2.057

3.  Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene: the common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese.

Authors:  Masayo Kanai; Kazuki Kijima; Emi Shirahata; Ayako Sasaki; Kazuhiro Akaba; Kazuo Umetsu; Naohiro Tezuka; Hirohisa Kurachi; Shogo Aikawa; Kiyoshi Hayasaka
Journal:  Pediatr Int       Date:  2005-04       Impact factor: 1.524

4.  Contribution of G71R mutation to Gilbert's syndrome phenotype in a Greek patient: A case report.

Authors:  Vassiliki Kalotychou; Maria Karakosta; Revekka Tzanetea; Aleka Stamoulakatou; Kostas Konstantopoulos; Yannis Rombos
Journal:  World J Gastrointest Pharmacol Ther       Date:  2011-10-06

5.  A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.

Authors:  Baljit S Sappal; Siddhartha S Ghosh; Benjamin Shneider; Ajit Kadakol; Jayanta Roy Chowdhury; Namita Roy Chowdhury
Journal:  Mol Genet Metab       Date:  2002-02       Impact factor: 4.797

6.  Restriction fragment length polymorphism effectively identifies exon 1 mutation of UGT1A1 gene in patients with Gilbert's Syndrome.

Authors:  Tzu-Yue Shiu; Hsin-Hung Huang; Hsuan-Hwai Lin; Yu-Lueng Shih; Heng-Cheng Chu; Wei-Kuo Chang; Tsai-Yuan Hsieh
Journal:  Liver Int       Date:  2015-02-06       Impact factor: 5.828

Review 7.  Diagnostic criteria and contributors to Gilbert's syndrome.

Authors:  Karl-Heinz Wagner; Ryan G Shiels; Claudia Anna Lang; Nazlisadat Seyed Khoei; Andrew C Bulmer
Journal:  Crit Rev Clin Lab Sci       Date:  2018-02-01       Impact factor: 6.250

8.  Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Authors:  Giulia Canu; Angelo Minucci; Cecilia Zuppi; Ettore Capoluongo
Journal:  Blood Cells Mol Dis       Date:  2013-02-09       Impact factor: 3.039

9.  Genetic polymorphisms in the TATA box and upstream phenobarbital-responsive enhancer module of the UGT1A1 promoter have combined effects on UDP-glucuronosyltransferase 1A1 transcription mediated by constitutive androstane receptor, pregnane X receptor, or glucocorticoid receptor in human liver.

Authors:  Ye Li; David Buckley; Shuang Wang; Curtis D Klaassen; Xiao-bo Zhong
Journal:  Drug Metab Dispos       Date:  2009-06-18       Impact factor: 3.922

10.  Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis.

Authors:  Zibi Yu; Kaichang Zhu; Li Wang; Ying Liu; Jianmei Sun
Journal:  Med Sci Monit       Date:  2015-10-15
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