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=Volume 13 - 2022

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=Background: Dubin-Johnson syndrome is a rare autosomal recessive genetic disease, which is caused by mutations in the ABCC2 gene. It is characterized by chronic hyperbilirubinemia. Here, we reported two pedigrees affected with Dubin-Johnson syndrome, 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 as Dubin-Johnson syndrome. Three novel pathogenic ABCC2 mutations, c.2980delA, c.1834C>T and c.4465_4473delinsGGCCCACAG, were identified by the whole-exome sequencing. These mutations could be responsible for Dubin-Johnson syndrome in the two pedigrees. The genetic test confirmed their diagnosis of Dubin-Johnson syndrome.
Conclusions: These results contributed to the genetic diagnosis of the two patients with Dubin-Johnson syndrome, and expanded the variant database for the ABCC2 gene.