ArticleEuropean journal of human genetics : EJHG2012
First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 54 citations in OpenAlex.
- Compensated Cirrhosis in a 40-Year-Old Woman With Progressive Familial Intrahepatic Cholestasis Type 3.ACG case reports journal · 2026Article
- Beyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.Diagnostics (Basel, Switzerland) · 2026Review
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Primary intrahepatic lithiasis in western countries: role of ultrasound and comparison with MRI with MRCP.European journal of gastroenterology & hepatology · 2025Article
- A RareJournal of clinical medicine · 2025Article
- Association between ABCB4 variants and intrahepatic cholestasis of pregnancy.Scientific reports · 2025Article
- Ursodeoxycholic acid treatment of LPAC presenting as post cholecystectomy pain: rationale and design of a randomised trial.Translational gastroenterology and hepatology · 2025Article
- Genetic issues in ICP.Obstetric medicine · 2024Review
- A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.BMC medical genomics · 2023Article
- Low phospholipids associated cholelithiasis syndrome in a young women: A rare case report.Radiology case reports · 2023Article
- Article
- Genetic Analysis ofGenes · 2022Review
- Kinsenoside Alleviates 17α-Ethinylestradiol-Induced Cholestatic Liver Injury in Rats by Inhibiting Inflammatory Responses and Regulating FXR-Mediated Bile Acid Homeostasis.Pharmaceuticals (Basel, Switzerland) · 2021Article
- Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.JHEP reports : innovation in hepatology · 2021Article
- Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Gastroenterology research and practice · 2017Article
- Liver transplantation and the management of progressive familial intrahepatic cholestasis in children.World journal of transplantation · 2016Review
- Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2-deficient mice.Hepatology (Baltimore, Md.) · 2016Article
- Prevalence of ABCB4 polymorphisms in gallstone disease in han-Chinese population.American journal of translational research · 2016Article
- Analysis of mutations ofExperimental and therapeutic medicine · 2015Article
- Correlation between mutation of MDR3 gene exon 6 and parenteral nutrition-associated cholestasis of preterm infants.Experimental and therapeutic medicine · 2014Article
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The wide clinical spectrum of the ABCB4 gene (ATP-binding cassette subfamily B member 4) deficiency syndromes in humans includes low phospholipid-associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (ICP), oral contraceptives-induced cholestasis (CIC), and progressive familial intrahepatic cholestasis type 3 (PFIC3). No ABCB4 mutations are found in a significant proportion of patients with these syndromes. In the present study, 102 unrelated adult patients with LPAC (43 patients) or CIC/ICP (59 patients) were screened for ABCB4 mutations using DNA sequencing. Heterozygous ABCB4 point or short insertion/deletion mutations were found in 37% (16/43) of the LPAC patients and in 27% (16/59) of the ICP/CIC patients. High-resolution gene dosage methodologies were used in the 70 negative patients. Here, we describe for the first time ABCB4 partial or complete heterozygous deletions in 7% (3/43) of the LPAC patients, and in 2% (1/59) of the ICP/CIC patients. Our observations urge to systematically test patients with LPAC, ICP/CIC, and also children with PFIC3 for the presence of ABCB4 deletions using molecular tools allowing detection of gross rearrangements. In clinical practice, a comprehensive ABCB4 alteration-screening algorithm will permit the use of ABCB4 genotyping to confirm the diagnosis of LPAC or ICP/CIC, and allow familial testing. An early diagnosis of these biliary diseases may be beneficial because of the preventive effect of ursodeoxycholic acid on biliary complications. Further comparative studies of patients with well-characterized genotypes (including deletions) and phenotypes will help determine whether ABCB4 mutation types influence clinical outcomes.
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