Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene.
10.3760/cma.j.cn511374-20210530-00458
- Author:
Ganye ZHAO
1
;
Xuechao ZHAO
;
Li'na LIU
;
Conghui WANG
;
Qianqian LI
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdgene@163.com.
- Publication Type:Journal Article
- MeSH:
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Jaundice, Chronic Idiopathic/pathology*;
Multidrug Resistance-Associated Protein 2;
Multidrug Resistance-Associated Proteins/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(9):974-978
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology and differential diagnosis for a patient with jaundice.
METHODS:Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software.
RESULTS:High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene (NM_000392) including c.3011C>T (p.T1004I) and c.3541C>T (p.R1181X), which were respectively inherited from his father and mother. Both variants have been previously unreported and predicted to be pathogenic by bioinformatics analysis.
CONCLUSION:The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene. Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient.
