A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.
- Author:
Jin WANG
1
;
Ling-Juan FANG
;
Long LI
;
Jian-She WANG
;
Chao CHEN
Author Information
1. Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China.
- Publication Type:Clinical Trial
- MeSH:
Crigler-Najjar Syndrome;
diagnosis;
genetics;
Frameshift Mutation;
genetics;
Glucuronosyltransferase;
genetics;
Humans;
Infant, Newborn;
Male
- From:
Chinese Medical Journal
2011;124(23):4109-4111
- CountryChina
- Language:English
-
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.
