AUTHOR=Zhao Chenyu , Shi Xiaoliu , Zhang Yonghong , Huang Hui 

TITLE=Case Report: Three novel pathogenic ABCC2 mutations identified in two patients with Dubin–Johnson syndrome

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.895247

DOI=10.3389/fgene.2022.895247

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> Dubin–Johnson syndrome (DJS) is a rare autosomal recessive genetic disease which is caused by mutations in the <italic>ABCC2</italic> gene; it is characterized by chronic hyperbilirubinemia. Here, we report two pedigrees affected with DJS which were caused by three novel pathogenic <italic>ABCC2</italic> mutations.</p><p><bold>Case summary:</bold> The two patients exhibited intermittent low-grade, predominantly conjugated hyperbilirubinemia and showed no other abnormalities. They were diagnosed clinically with DJS. Three novel pathogenic <italic>ABCC2</italic> mutations—c.2980delA, c.1834C&gt;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.</p><p><bold>Conclusion:</bold> These results contributed to the genetic diagnosis of the two patients with DJS and expanded the variant database for the <italic>ABCC2</italic> gene.</p>