title: Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait.
abstract: 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.
authors: Laboratory of Biochemistry, Aichi Cancer Center Research Institute, Nagoya, Japan.
authors: O
authors: O
authors: Koiwai
authors: S
authors: S
authors: Aono
authors: Y
authors: Y
authors: Adachi
authors: T
authors: T
authors: Kamisako
authors: Y
authors: Y
authors: Yasui
authors: M
authors: M
authors: Nishizawa
authors: H
authors: H
authors: Sato
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002855:Chromatography, Thin Layer; D003414:Crigler-Najjar Syndrome / Q000235:genetics*; D004591:Electrophoresis, Polyacrylamide Gel; D005799:Genes, Dominant; D005808:Genes, Recessive; D014453:Glucuronosyltransferase / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D014453:Glucuronosyltransferase