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

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.

• 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)
• Copyright: Copyright © 2013 Elsevier Inc. All rights reserved.

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase

Topics

• Crigler-Najjar Syndrome (genetics, metabolism)
• Databases, Nucleic Acid
• Gilbert Disease (genetics, metabolism)
• Glucuronosyltransferase (genetics)
• Humans
• Mutation