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Case Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis
Gaël A Kornitzer1,2, Fernando Alvarez1,2,3
1From the Faculty of Medicine, University of Montreal, Montreal, QC, Canada.
Insights
Benign recurrent intrahepatic cholestasis (BRIC) can be linked to TJP2 gene mutations. This study reports the first case of BRIC resembling symptoms caused by a single TJP2 gene variant.
Area of Science:
- Hepatology
- Genetics
- Molecular Biology
Background:
- Benign recurrent intrahepatic cholestasis (BRIC) is a spectrum of familial intrahepatic cholestasis.
- BRIC is typically associated with homozygous mutations in ABCB11 or ATP8B1 genes.
- Recent studies link TJP2 gene mutations to progressive familial intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
Observation:
- A 15-year-old female presented with recurrent jaundice, vomiting, intense pruritus, anorexia, and weight loss.
- Laboratory results showed elevated serum conjugated bilirubin and liver enzymes, with normal gamma-glutamyl transferase.
- This clinical presentation was consistent with BRIC.
Findings:
- Genetic analysis revealed a novel, single allele mutation in the TJP2 gene.
- This mutation was heterozygous and of unknown functional significance.
- This is the first reported case of BRIC-like symptoms associated with a heterozygous TJP2 mutation.
Implications:
- This finding expands the known genetic spectrum of BRIC.
- It suggests that heterozygous TJP2 mutations may play a role in cholestatic liver diseases.
- Further research is needed to understand the functional significance of this TJP2 variant.
Abstract:
Benign recurrent intrahepatic cholestasis (BRIC) is a disease on the spectrum of familial intrahepatic cholestasis caused by homozygous ABCB11 or ATP8B1 mutations. In recent years, genetic testing has allowed for discovery of a variety of homozygous or compound heterozygous TJP2 mutations associated with progressive familial intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. To our knowledge, no cases of BRIC caused by a single variant mutation of TJP2 have been reported. We describe a 15-year-old female presenting with recurrent episodes of jaundice, vomiting, with intense pruritus, anorexia, and weight loss. Blood work revealed elevated serum conjugated bilirubin and liver enzymes but normal gamma-glutamyl transferase, consistent with BRIC. A genetic panel identified a not previously described single allele mutation in TJP2 of unknown functional significance. This is the first reported case of a clinical entity resembling BRIC with a heterozygous mutation in TJP2, without associated mutations in other cholestasis-related genes.
