A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome

A new frame-shifting mutation of UGT1A1 gene

causes type I Crigler-Najjar syndrome

WANG Jin;FANG Ling-juan;LI Long;WANG Jian-she;CHEN Chao

【期刊名称】《中华医学杂志（英文版）》 【年(卷),期】2011(124)023

【摘要】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.

【总页数】3页(4109-4111) 【关键词】

【作者】WANG Jin;FANG Ling-juan;LI Long;WANG Jian-she;CHEN Chao 【作者单位】Department of Neonatology, Children's Hospital of Fudan University, Shanghai 201102, China;Center for Pediatric Liver Disease, Children's

Hospital

of

Fudan

University,

Shanghai

201102,