Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
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.
Maruo
Y
Y
Department of Pediatrics, Shiga University of Medical Science, Japan.
Sato
H
H
Yamano
T
T
Doida
Y
Y
Shimada
M
M
D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D005878:Gilbert Disease / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction
D014453:Glucuronosyltransferase