Abstract |
UGT1A1 enzyme defects are responsible of both Gilbert syndrome (GS) and Crigler-Najjar syndrome (CNS). GS depends on a variant TATAA element (which contains two extra TA nucleotides as compared to the wild type genotype) in the UGT1A1 gene promoter resulting in a reduced gene expression. On the contrary, CNS forms are classified in two types depending on serum total bilirubin concentrations (STBC): the more severe (CNS-I) is characterized by high levels of STBC (342-684μmol/L), due to total deficiency of the UGT1A1 enzyme, while the milder one, namely CNS-II, is characterized by partial UGT1A1 deficiency with STBC ranging from 103 to 342μmol/L. GS and CNS are caused by genetic lesions involving a complex locus encoding the UGT1A1 gene. The present report provides an update of all reported UGT1A1 gene mutations associated to GS and CNS.
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Authors | Giulia Canu, Angelo Minucci, Cecilia Zuppi, Ettore Capoluongo |
Journal | Blood cells, molecules & diseases
(Blood Cells Mol Dis)
Vol. 50
Issue 4
Pg. 273-80
(Apr 2013)
ISSN: 1096-0961 [Electronic] United States |
PMID | 23403257
(Publication Type: Journal Article)
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Copyright | Copyright © 2013 Elsevier Inc. All rights reserved. |
Chemical References |
- UGT1A1 enzyme
- Glucuronosyltransferase
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Topics |
- Crigler-Najjar Syndrome
(genetics, metabolism)
- Databases, Nucleic Acid
- Gilbert Disease
(genetics, metabolism)
- Glucuronosyltransferase
(genetics)
- Humans
- Mutation
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