{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T22:40:05Z","timestamp":1775860805258,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,5,30]]},"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:p>A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzymes with normal gamma-glutamyl transferase (GGT). Antinuclear antibody (ANA), smooth muscle antibody (SMA) anti-liver kidney microsomal (anti-LKM) and viral markers for hepatitis were negative. However, IgG was elevated and anti-smooth muscle antibody (ASMA) was weekly positive (1:20). He was also given a trial of steroid and azathioprine for 1\u2009year on the basis of liver biopsy findings, raised IgG and positive ASMA but finding no improvement stopped. Genetic testing by next-generation sequencing found a novel compound heterozygous missense variation in exon 17 of the TJP2 gene confirming progressive familial intrahepatic cholestasis type 4 as the aetiology of cholestatic liver disease.<\/jats:p>","DOI":"10.1136\/bcr-2019-234193","type":"journal-article","created":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T06:02:45Z","timestamp":1594101765000},"page":"e234193","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation"],"prefix":"10.1136","volume":"13","author":[{"given":"Nida","family":"Mirza","sequence":"first","affiliation":[{"name":"Pediatric Gasteroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Bharadwaj","sequence":"additional","affiliation":[{"name":"Pediatric Gasteroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smita","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Pediatric Gasteroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupam","family":"Sibal","sequence":"additional","affiliation":[{"name":"Pediatric Gasteroenterology, Indraprastha Apollo Hospital, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,7,6]]},"reference":[{"key":"2025082708575613000_13.7.e234193.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jceh.2013.10.005"},{"key":"2025082708575613000_13.7.e234193.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2918"},{"key":"2025082708575613000_13.7.e234193.3","doi-asserted-by":"publisher","DOI":"10.1042\/BC20040147"},{"key":"2025082708575613000_13.7.e234193.4","doi-asserted-by":"crossref","DOI":"10.1080\/21688370.2015.1026537","article-title":"Mutations in TJP2, encoding zona occludens 2, and liver disease","volume":"3","author":"Sambrotta","year":"2015","journal-title":"Tissue Barriers"},{"key":"2025082708575613000_13.7.e234193.5","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1002\/hep.27872","article-title":"Hepatocellular carcinoma associated with tight-junction protein 2 deficiency","volume":"62","author":"Zhou","year":"2015","journal-title":"Hepatology"},{"key":"2025082708575613000_13.7.e234193.6","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s00428-017-2204-1","article-title":"Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency","volume":"471","author":"Vij","year":"2017","journal-title":"Virchows Arch"},{"key":"2025082708575613000_13.7.e234193.7","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1007\/s00535-017-1423-1","article-title":"Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, Abcb4, and TJP2 gene variants analysis by high-throughput sequencing","volume":"53","author":"Vitale","year":"2018","journal-title":"J Gastroenterol"},{"key":"2025082708575613000_13.7.e234193.8","doi-asserted-by":"crossref","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","year":"2017","journal-title":"Sci Rep"},{"key":"2025082708575613000_13.7.e234193.9","doi-asserted-by":"crossref","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","year":"2019","journal-title":"BMC Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2019-234193","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:58:03Z","timestamp":1756310283000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2019-234193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7]]},"references-count":9,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2020,7,6]]},"published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1136\/bcr-2019-234193"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2019-234193","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7]]}}}