Related Experiment Video
Updated: Aug 29, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin-Johnson syndrome
Chenyu Zhao1,2, Xiaoliu Shi2, Yonghong Zhang3
1Department of Gastroenterology, The Second Xiangya Hospital, Central South University, Changsha, China.
Insights
Dubin-Johnson syndrome (DJS), a rare genetic disorder, is caused by novel mutations in the ABCC2 gene. This study identifies three new ABCC2 mutations, aiding in the genetic diagnosis of DJS.
Area of Science:
- Genetics
- Molecular Biology
- Hepatology
Background:
- Dubin-Johnson syndrome (DJS) is a rare, autosomal recessive genetic disorder.
- It is characterized by chronic hyperbilirubinemia due to mutations in the ABCC2 gene.
Observation:
- Two families presented with intermittent, low-grade conjugated hyperbilirubinemia without other symptoms.
- Clinical diagnosis of DJS was made based on patient presentation.
Findings:
- Whole-exome sequencing identified three novel pathogenic ABCC2 gene mutations: c.2980delA, c.1834C>T, and c.4465_4473delinsGGCCCACAG.
- These mutations are strongly associated with DJS in the affected pedigrees.
- Genetic testing confirmed the DJS diagnosis.
Implications:
- This research contributes to the precise genetic diagnosis of DJS in the studied patients.
- The identified novel ABCC2 variants expand the known mutation database for this gene.
- Enhanced understanding of ABCC2 mutations aids in diagnosing and managing Dubin-Johnson syndrome.
Abstract:
Background: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive genetic disease which is caused by mutations in the ABCC2 gene; it is characterized by chronic hyperbilirubinemia. Here, we report two pedigrees affected with DJS which were caused by three novel pathogenic ABCC2 mutations. Case summary: The two patients exhibited intermittent low-grade, predominantly conjugated hyperbilirubinemia and showed no other abnormalities. They were diagnosed clinically with DJS. Three novel pathogenic ABCC2 mutations-c.2980delA, c.1834C>T, and c.4465_4473delinsGGCCCACAG-were identified by whole-exome sequencing. These mutations could be responsible for DJS in the two pedigrees. The genetic test confirmed the diagnosis of DJS. Conclusion: These results contributed to the genetic diagnosis of the two patients with DJS and expanded the variant database for the ABCC2 gene.
More Related Videos
Related Concept Videos
01:27ABC Transporters: Importer
In bacteria, based on the number of transmembrane helices and the chemical nature of their substrates, the ABC importers can be divided into three types:
01:23Cystic Fibrosis: Pathogenesis
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
01:31ABC Transporters: Exporter