ArticleWorld journal of gastroenterology2020
New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report.
Article in World journal of gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 32 citations in OpenAlex.
- Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.Diagnostics (Basel, Switzerland) · 2026Review
- Advancing the Diagnosis and Management of Genetic Cholestatic Liver Disease in Adults.Digestive diseases and sciences · 2026Review
- New hope in treating progressive familial intrahepatic cholestasis in children.World journal of hepatology · 2025Review
- Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.Journal of human genetics · 2025Article
- Article
- Progressive familial intrahepatic cholestasis type 4: a case report.Journal of medical case reports · 2024Article
- Rapid in vivo evaluation system for cholestasis-related genes in mice with humanized bile acid profiles.Hepatology communications · 2024Article
- Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.Hepatology communications · 2023Article
- Severe Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.Sultan Qaboos University medical journal · 2023Article
- A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review.Cureus · 2023Article
- Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.Frontiers in pharmacology · 2023Review
- Review
- Review
- Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series.Surgical case reports · 2022Article
- Case Report: A rare case of young adult progressive familial intrahepatic cholestasis-type 3 with a novel heterozygous pathogenic variant ofFrontiers in pediatrics · 2022Article
- Newer variants of progressive familial intrahepatic cholestasis.World journal of hepatology · 2021Review
- [Clinical features, diagnosis, and treatment strategies of progressive familial intrahepatic cholestasis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
- TJP2 Deficiency Presenting as HighJPGN reports · 2021Article
- New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.Journal of human genetics · 2021Article
- Two Novel Pathogenic Variants ofFrontiers in cell and developmental biology · 2021Article
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Authors and funding
6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundProgressive familial intrahepatic cholestasis (PFIC) encompasses a group of autosomal recessive disorders with high morbidity and mortality. Variants in the gene encoding tight junction protein-2 (TJP2) have been linked to PFIC type 4 (PFIC4), which predominantly presents in childhood. However, there are only limited data from adults with TJP2-related PFIC4. We report a family with an autosomal recessive disorder with a novel variant in the CASE SUMMARY: The index patient presented at 19 years old with liver cirrhosis and variceal bleeding and was treated with endoscopic banding and beta-blockers. In 2018, he developed primary liver cancer that was treated with radiofrequency ablation followed by liver transplantation in 2019. Genetic testing revealed a novel homozygous TJP2 variant causing PFIC4 (TJP2([NM_004817.3]:c.[3334C>T]; [3334C>T])). The consanguineous family consists of the father and mother (both heterozygous) and their 12 children, of which five carry the variant in a homozygous state; however, these five siblings have highly variable expression of PFIC4. Two homozygous brothers had cirrhosis and portal hypertension at diagnosis at the ages of 19 and 36. Two other homozygous brothers, age 23 and 19, and the homozygous sister, age 21, have elevated liver enzymes but presently no cirrhosis, which may suggest an age-dependent penetrance. In addition, five sisters had severe and mild intrahepatic cholestasis of pregnancy and carry the TJP2 variant in a homozygous and heterozygous state, respectively.
conclusionThis novel TJP2 variant is associated with PFIC4 causing severe liver disease with cirrhosis and primary liver cancer in adolescents/adults.
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