Clinical characteristics and genotype in Dubin-Johnson syndrome: A case report and review of the literature.

Background: Dubin-Johnson syndrome (DJS) is a benign autosomal recessive liver disease involving mutations of the gene. It is characterized by chronic or intermittent conjugated hyperbilirubinemia, with chronic idiopathic jaundice as the main clinical manifestation. Genetic alterations of the gene are commonly used for diagnosing DJS; however, the causative point mutation in Chinese patients remains unknown. Research on mutations in Chinese DJS patients is extremely rare, and the diagnosis of DJS remains limited. The routine analysis of mutations is helpful for the diagnosis of DJS. Here, we report the clinical characteristics and genotype of an adult female DJS patient. This article is to expound the discovery of more potentially pathogenic variants will that contribute to DJS identification.

Case Summary: This study investigated a woman referred for DJS and involved clinical and genetic analyses. mutations were identified by next-generation sequencing (NGS). The patient showed intermittent jaundice and conjugated hyper-bilirubinemia. Histopathological examinations were consistent with the typical phenotype of DJS. Genetic diagnostic analysis revealed an genotype exhibiting a pathogenic variant, namely c.2443C>T (p.Arg815*), which has not been reported previously in the domestic or foreign literature.

Conclusion: Pathogenic mutations play an important role in the diagnosis of DJS, especially in patients with atypical presentations. Currently, NGS is used in the routine analysis of DJS cases and such tests of further cases will better illuminate the relationship between various genotypes and phenotypes of DJS.