Ranran Shi, N. Geng, Zhenzhen Zhao, Yong Zhou, Yongning Xin
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Two Novel Variants of Undetermined Significance in the ABCC2 Gene Were Identified in a Patient with Dubin-Johnson Syndrome
Dubin-Johnson syndrome (DJS), also known as chronic idiopathic jaundice, black liver-jaundice syndrome, etc. most often develops in adolescents or young adults, and is more common in males, with clinical manifestations of asymptomatic long-term mild-moderate jaundice. The disease belongs to hereditary non-hemolytic jaundice. It is an autosomal recessive genetic disease caused by variants in the ATP-binding cassette subfamily C member ( ABCC2 ) gene. It is characterized by intermittent, predominantly conjugated hyperbilirubinemia and liver pigmentation. Routine ABCC2 gene variant analysis can help in the diagnosis of DJS. In the present study, we reported a patient with Dubin-Johnson syndrome who underwent jaundice-related gene sequencing and identified two novel unknown and significant variants: c.2439+5G>A(p.?) and c.2345_2347del (p.Tyr782_Leu783delinsPhe) of the ABCC2
期刊介绍:
Gene Expression, The Journal of Liver Research will publish articles in all aspects of hepatology. Hepatology, as a research discipline, has seen unprecedented growth especially in the cellular and molecular mechanisms of hepatic health and disease, which continues to have a major impact on understanding liver development, stem cells, carcinogenesis, tissue engineering, injury, repair, regeneration, immunology, metabolism, fibrosis, and transplantation. Continued research and improved understanding in these areas will have a meaningful impact on liver disease prevention, diagnosis, and treatment. The existing journal Gene Expression has expanded its focus to become Gene Expression, The Journal of Liver Research to meet this growing demand. In its revised and expanded scope, the journal will publish high-impact original articles, reviews, short but complete articles, and special articles (editorials, commentaries, opinions) on all aspects of hepatology, making it a unique and invaluable resource for readers interested in this field. The expanded team, led by an Editor-in-Chief who is uniquely qualified and a renowned expert, along with a dynamic and functional editorial board, is determined to make this a premier journal in the field of hepatology.