title: A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.
abstract: We present a case of severe persisting unconjugated hyperbilirubinemia in a Uigur infant boy, eventually diagnosed as Crigler-Najjar syndrome type I. DNA analysis of his blood of the UGT1A1 gene sequence demonstrated that he was homozygous for an insertion mutation causing a change of the coding exons with a frame-shift, resulting in the substitution of 27 abnormal amino acid residues in his hepatic bilirubin uridine diphosphoglucuronyl transferase enzyme. Both of his parents were heterozygous for the same mutation. A novel frame-shifting mutation of the UGT1A1 gene was found, confirming the diagnosis of Crigler-Najjar syndrome type I for this patient.
authors.affiliation: Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.forename: Ling-Juan
authors.initials: LJ
authors.lastname: Fang
authors.forename: Long
authors.initials: L
authors.lastname: Li
authors.forename: Jian-She
authors.initials: JS
authors.lastname: Wang
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
mesh_terms: D003414:Crigler-Najjar Syndrome / Q000175:diagnosis* / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme