ArticleJournal of gastroenterology2018
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Article in Journal of gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 62 citations in OpenAlex.
- Genetic testing in liver diseases: Clinical applications.JHEP reports : innovation in hepatology · 2026Review
- 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
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Pediatric cholelithiasis: a comprehensive analysis of clinical characteristics and surgical treatment strategies.Translational pediatrics · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- [Clinical characteristics ofZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.ACG case reports journal · 2024Article
- Intrahepatic cholestasis of pregnancy after ovarian hyperstimulation syndrome with wild-type ABCB4 gene: a peculiar case and literature review.BMC women's health · 2023Review
- Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom.Scientific reports · 2023Article
- Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis.International journal of molecular sciences · 2023Review
- ABCB4 Mutations in Adults Cause a Spectrum Cholestatic Disorder Histologically Distinct from Other Biliary Disease.Digestive diseases and sciences · 2022Article
- The Etiology of Cholelithiasis in Children and Adolescents-A Literature Review.International journal of molecular sciences · 2022Review
- Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis.Expert opinion on pharmacotherapy · 2022Article
- Review
- Review
- Genetic Analysis ofGenes · 2022Review
- Clinical outcomes of surgical management for rare types of progressive familial intrahepatic cholestasis: a case series.Surgical case reports · 2022Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in ATP-transporters ATPB81, ABCB11, and ABCB4 are responsible for progressive familial intrahepatic cholestasis (PFIC) 1, 2 and 3, and recently the gene for tight junction protein-2 (TJP2) has been linked to PFIC4.
aimAs these four genes have been poorly studied in young people and adults, we investigated them in this context here.
methodsIn patients with cryptogenic cholestasis, we analyzed the presence of mutations by high-throughput sequencing. Bioinformatics analyses were performed for mechanistic and functional predictions of their consequences on biomolecular interaction interfaces.
resultsOf 108 patients, 48 whose cause of cholestasis was not established were submitted to molecular analysis. Pathogenic/likely pathogenic mutations were found in ten (21%) probands for 13 mutations: two in ATP8B 1, six in ABCB11, two in ABCB4, three in TJP2. We also identified seven variants of uncertain significance: two in ATP8B1, one in ABCB11, two in ABCB4 and two in TJP2. Finally, we identified 11 benign/likely benign variants. Patients with pathogenic/likely pathogenic mutations had higher levels of liver stiffness (measured by FibroScan
conclusionsMutations in the genes responsible for PFIC may be involved in both young and adults with cryptogenic cholestasis in a considerable number of cases, including in heterozygous status. Diagnosis should always be suspected, particularly in the presence of itching.
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