Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3
10.3760/cma.j.cn501113-20230217-00061
- VernacularTitle:3型进行性家族性肝内胆汁淤积症病例临床及遗传学分析
- Author:
Yueli SHEN
1
;
Xiantu ZHANG
;
Yunhao XUN
Author Information
1. 浙江中医药大学，杭州 310053
- Keywords:
Progressive familial intrahepatic cholestasis;
ABCB4 gene;
Whole exome sequencing;
Mutation;
Cholestasis
- From:
Chinese Journal of Hepatology
2023;31(3):307-313
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To conduct clinical and genetic analysis in two cases of cholestatic liver disease to determine the specific etiology of cholestasis.Methods:Clinical data and the medical histories in family members of two cases were collected. The gene variation was detected by whole-exome sequencing technology. Sanger sequencing validation and bioinformatics analysis were performed on patients and their parents with suspected pathogenic mutations.Results:Whole-exome sequencing showed that the ABCB4 gene of case 1 (a male, 16 years old) had compound heterozygous mutations of c.646C > T from the father and c.927T > A from the mother, while the ABCB4 gene of case 2 (a female, 17 years old) had a compound heterozygous mutation of c.2784-1G > A from the father and c.646C > T from the mother. New mutation sites that had not been previously reported were c.646C > T, c.927T > A, and c.2784-1G > A.Conclusion:In this study, both cases had progressive familial intrahepatic cholestasis type 3 (PFIC-3) caused by ABCB4 gene mutations, and it also enriched the ABCB4 pathogenic variant spectrum. Whole-exome sequencing technology provides a reliable diagnostic tool for etiological analysis.
