Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene

Y Maruo; H Sato; T Yamano; Y Doida; M Shimada

doi:10.1016/s0022-3476(98)70408-1

Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene

J Pediatr. 1998 Jun;132(6):1045-7. doi: 10.1016/s0022-3476(98)70408-1.

Authors

Y Maruo¹, H Sato, T Yamano, Y Doida, M Shimada

Affiliation

¹ Department of Pediatrics, Shiga University of Medical Science, Japan.

PMID: 9627603
DOI: 10.1016/s0022-3476(98)70408-1

Abstract

We report a case of Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of the bilirubin UDP-glucuronosyltransferase gene. Homozygous missense mutations of the gene have previously been recognized as responsible for Crigler-Najjar syndrome type II. We conclude that Gilbert syndrome in some patients results from homozygous missense mutations of the UDP-glucuronosyltransferase gene.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Child
Exons / genetics
Female
Gilbert Disease / genetics*
Glucuronosyltransferase / genetics*
Homozygote
Humans
Mutation*
Polymerase Chain Reaction

Substances

Glucuronosyltransferase