{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T08:49:30Z","timestamp":1753519770976,"version":"3.28.0"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,18]]},"DOI":"10.7759\/cureus.73927","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T18:23:41Z","timestamp":1731954221000},"source":"Crossref","is-referenced-by-count":1,"title":["A Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review"],"prefix":"10.7759","author":[{"given":"Deepika","family":"Pandey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay","family":"Chandnani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harsh","family":"Gandhi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mavuri","family":"Vishal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pravin M","family":"Rathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-1","article-title":"Progressive familial intrahepatic cholestasis","volume":"4","author":"Davit-Spraul A","year":"2009","unstructured":"Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009, 4:1. 10.1186\/1750-1172-4-1","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S2210-7401(12)70018-9.","article-title":"Progressive familial intrahepatic cholestasis","volume":"1","author":"Jacquemin E","year":"2012","unstructured":"Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2012, 1:26-35. 10.1016\/S2210-7401(12)70018-9.","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2018.07.010. Epub 2018 Sep 17. Erratum in","article-title":"A systematic review of progressive familial intrahepatic cholestasis","volume":"43","author":"Baker A","year":"2019","unstructured":"Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. A systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019, 43:20-36.. 10.1016\/j.clinre.2018.07.010. Epub 2018 Sep 17. Erratum in","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2018.07.010","article-title":"Systematic review of progressive familial intrahepatic cholestasis","volume":"43","author":"Baker A","year":"2019","unstructured":"Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RH. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019, 43:20-36. 10.1016\/j.clinre.2018.07.010","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref6","article-title":"Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review","volume":"75","author":"Strubbe B","year":"2012","unstructured":"Strubbe B, Geerts A, Van Vlierberghe H, Colle I. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. Acta Gastroenterol Belg. 2012, 75:405-10.","journal-title":"Acta Gastroenterol Belg"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.8.3460","article-title":"Identification of a 160-kDa polypeptide that binds to the tight junction protein ZO-1","volume":"88","author":"Gumbiner B","year":"1991","unstructured":"Gumbiner B, Lowenkopf T, Apatira D. Identification of a 160-kDa polypeptide that binds to the tight junction protein ZO-1. Proc Natl Acad Sci U S A. 1991, 88:3460-4. 10.1073\/pnas.88.8.3460","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.7.1539","article-title":"Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin","volume":"141","author":"Furuse M","year":"1998","unstructured":"Furuse M, Fujita K, Hiiragi T, Fujimoto K, Tsukita S. Claudin-1 and -2: novel integral membrane proteins localizing at tight junctions with no sequence similarity to occludin. J Cell Biol. 1998, 141:1539-50. 10.1083\/jcb.141.7.1539","journal-title":"J Cell Biol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1080\/21688370.2015.1026537","article-title":"Mutations in TJP2, encoding zona occludens 2, and liver disease","volume":"3","author":"Sambrotta M","year":"2015","unstructured":"Sambrotta M, Thompson RJ. Mutations in TJP2, encoding zona occludens 2, and liver disease. Tissue Barriers. 2015, 3:e1026537. 10.1080\/21688370.2015.1026537","journal-title":"Tissue Barriers"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/hep.27872","article-title":"Hepatocellular carcinoma associated with tight-junction protein 2 deficiency","volume":"62","author":"Zhou S","year":"2015","unstructured":"Zhou S, Hertel PM, Finegold MJ, et al.. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015, 62:1914-6. 10.1002\/hep.27872","journal-title":"Hepatology"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2918","article-title":"Mutations in TJP2 cause progressive cholestatic liver disease","volume":"46","author":"Sambrotta M","year":"2014","unstructured":"Sambrotta M, Strautnieks S, Papouli E, et al.. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014, 46:326-8. 10.1038\/ng.2918","journal-title":"Nat Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1147","article-title":"Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT","volume":"34","author":"Carlton VE","year":"2003","unstructured":"Carlton VE, Harris BZ, Puffenberger EG, et al.. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003, 34:91-6. 10.1038\/ng1147","journal-title":"Nat Genet"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-11626-x","article-title":"An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy","volume":"7","author":"Dixon PH","year":"2017","unstructured":"Dixon PH, Sambrotta M, Chambers J, et al.. An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. Sci Rep. 2017, 7:11823. 10.1038\/s41598-017-11626-x","journal-title":"Sci Rep"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23947","article-title":"TJP2 hepatobiliary disorders: Novel variants and clinical diversity","volume":"41","author":"Zhang J","year":"2020","unstructured":"Zhang J, Liu LL, Gong JY, et al.. TJP2 hepatobiliary disorders: Novel variants and clinical diversity. Hum Mutat. 2020, 41:502-11. 10.1002\/humu.23947","journal-title":"Hum Mutat"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-017-2204-1","article-title":"Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency","volume":"471","author":"Vij M","year":"2017","unstructured":"Vij M, Shanmugam NP, Reddy MS, Sankaranarayanan S, Rela M. Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency. Virchows Arch. 2017, 471:679-83. 10.1007\/s00428-017-2204-1","journal-title":"Virchows Arch"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v26.i5.550","article-title":"New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report","volume":"26","author":"Wei CS","year":"2020","unstructured":"Wei CS, Becher N, Friis JB, Ott P, Vogel I, Gr\u00f8nb\u00e6k H. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. World J Gastroenterol. 2020, 26:550-61. 10.3748\/wjg.v26.i5.550","journal-title":"World J Gastroenterol"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1097\/HEP.0000000000000828","article-title":"Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis","author":"Lal BB","year":"2024","unstructured":"Lal BB, Alam S, Sibal A, et al.. Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis. 2024. 10.1097\/HEP.0000000000000828"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2019-234193","article-title":"Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation","volume":"13","author":"Mirza N","year":"2020","unstructured":"Mirza N, Bharadwaj R, Malhotra S, Sibal A. Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation. BMJ Case Rep. 2020, 13:10.1136\/bcr-2019-234193","journal-title":"BMJ Case Rep"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0753-7","article-title":"Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease","volume":"20","author":"Ge T","year":"2019","unstructured":"Ge T, Zhang X, Xiao Y, Wang Y, Zhang T. Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. BMC Med Genet. 2019, 20:18. 10.1186\/s12881-019-0753-7","journal-title":"BMC Med Genet"},{"key":"ref20","article-title":"A rare case of progressive familial intrahepatic cholestasis type 4: a case report and literature review","volume":"18","author":"Halabi H","year":"2023","unstructured":"Halabi H, Kalantan K, Abdulhaq W, Alshaibi H, Almatrafi MA. A rare case of progressive familial intrahepatic cholestasis type 4: a case report and literature review. Cureus. 2023, 18:15.","journal-title":"Cureus"},{"key":"ref21","article-title":"Progressive familial intrahepatic cholestasis type 4 with stable liver disease","volume":"26","author":"Meshram H","year":"2020","unstructured":"Meshram H, Shah I. Progressive familial intrahepatic cholestasis type 4 with stable liver disease. Tropical Gastroenterology. 2020, 26:24-5.","journal-title":"Tropical Gastroenterology"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/307407-a-novel-compound-heterozygous-mutation-in-progressive-familial-intrahepatic-cholestasis-pfic-4-a-rare-case-report-with-literature-review","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T18:23:43Z","timestamp":1731954223000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/307407-a-novel-compound-heterozygous-mutation-in-progressive-familial-intrahepatic-cholestasis-pfic-4-a-rare-case-report-with-literature-review"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,18]]},"references-count":21,"URL":"https:\/\/doi.org\/10.7759\/cureus.73927","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11,18]]}}}