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Review
. 2006 Jan-Feb;36(1):77-80.
doi: 10.1016/j.bcmd.2005.10.006. Epub 2005 Dec 28.

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes

Elísio Costa  1
Affiliations
Review

Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes

Elísio Costa. Blood Cells Mol Dis. 2006 Jan-Feb.

Abstract

Gilbert and Crigler-Najjar syndromes are familial unconjugated hyperbilirubinemias caused by genetic lesions involving a single complex locus encoding for bilirubin UDP-glucuronosyltransferase (UGT1A1) gene. Over the last years a number of different mutations affecting this gene have been characterized. In this report is provided a summary of reported Gilbert and Crigler-Najjar syndromes associated UGT1A1 gene mutations.

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