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Human Molecular Genetics, Vol 5, 645-647, Copyright © 1996 by Oxford University Press

ARTICLES

Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait

O Koiwai, S Aono, Y Adachi, T Kamisako, Y Yasui, M Nishizawa and H Sato
Laboratory of Biochemistry, Aichi Cancer Center Research Institute, Nagoya, Japan.

Crigler-Najjar syndrome type II (CN-II) is caused by a severely reduced hepatic activity of bilirubin UDP-glucuronosyltransferase (UGT). Recently, by the analysis of the genetic background of CN-II patients, it has been clarified that the patients carry homozygous missense mutations or nonsense plus missense mutations on the gene for UGT, and CN-II was inherited as an autosomal recessive trait. We encountered a new case which had a nonsense mutation caused by a single nucleotide substitution on one allele. This indicates that CN-II is also inherited as a dominant trait as well as a recessive trait. Expression study in vitro strongly suggests that the disease in this case is caused by a dominant negative mutation by forming a heterologous subunit structure.
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