A family study of the compound heterozygous mutation of the UGT1A1 gene causing Crigler-Najjar syndrome type II

VernacularTitle:UGT1A1基因复合杂合突变引起Crigler-Najjar综合征II型的家系研究
Author: Lei LUO ¹ ; Xuebing YAO ; Sujun ZHENG ; Wenlong YANG
Author Information

1. 南昌大学第二附属医院感染性疾病科，南昌　330006
Keywords: Crigler-Najjar syndrome; UGT1A1 gene; Complex heterozygous mutation; Pedigree study
From: Chinese Journal of Hepatology 2023;31(2):168-173
CountryChina
Language:Chinese
Abstract: Objective:To investigate the family gene features in Crigler-Najjar syndrome (CNS) type II.Methods:The UGT1A1 gene and related bilirubin metabolism genes were comprehensively analysed in a CNS-II family (3 CNS-II, 1 Gilbert syndrome, and 8 normal subjects). The genetics basis of CNS-II were investigated from the perspective of family analysis. Results:In three cases, compound heterozygous mutations at three sites of the UGT1A1 gene (c.-3279T > G, c.211G > A and c.1456T > G) caused CNS-II. Gilbert syndrome and CNS-II were not significantly associated with distribution or diversity loci. Conclusion:The compound heterozygous pathogenic mutations (c.-3279T > G, c.211G > A, and c.1456T > G) at three loci of the UGT1A1 gene may be the feature of the newly discovered CNS-II family genes based on the CNS-II family study.