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

作者：Wang Jin; Fang Ling-juan; Li Long; Wang Jian-she; Chen Chao^*

来源：Chinese Medical Journal, 2011, 124(23): 4109-4111.

DOI：10.3760/cma.j.issn.0366-6999.2011.23.050

• Crigler-Najjar syndrome type I
• uridine diphosphoglucuronyl transferase
• neonate
• jaundice

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. Chin Med J 2011;124(23):4109-4111

• 出版日期2011-12-5
• 单位复旦大学; 新疆维吾尔自治区人民医院