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We report two siblings with varying clinical presentations of a fatal hepatic disease. Carrier whole-exome sequencing detected a novel heterozygous pathogenic mutation in the exon 28 of the ATPBB1 gene in both parents, thus validating the diagnosis of PFIC 1.<\/jats:p>","DOI":"10.1136\/bcr-2024-264596","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T03:15:19Z","timestamp":1748488519000},"page":"e264596","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Novel ATP8B1 gene mutation in a family with progressive familial intrahepatic cholestasis"],"prefix":"10.1136","volume":"18","author":[{"given":"Shrutiprajna","family":"Kar","sequence":"first","affiliation":[{"name":"Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9487-4651","authenticated-orcid":false,"given":"Usha","family":"Devi","sequence":"additional","affiliation":[{"name":"Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit Kumar","family":"Satpathy","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Praisy","family":"Joy","sequence":"additional","affiliation":[{"name":"Anatomy, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"key":"2025082711553020000_18.5.e264596.1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026187"},{"key":"2025082711553020000_18.5.e264596.2","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-4-1","article-title":"Progressive familial intrahepatic cholestasis","volume":"4","author":"Davit-Spraul","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"2025082711553020000_18.5.e264596.3","first-page":"179","article-title":"Genetic cholestatic liver diseases: the example of progressive familial intrahepatic cholestasis and related disorders","volume":"67","author":"Baussan","year":"2004","journal-title":"Acta Gastroenterol Belg"},{"key":"2025082711553020000_18.5.e264596.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2010.01.034"},{"key":"2025082711553020000_18.5.e264596.5","doi-asserted-by":"publisher","DOI":"10.1002\/hep.23539"},{"key":"2025082711553020000_18.5.e264596.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.dld.2010.03.015"},{"key":"2025082711553020000_18.5.e264596.7","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20285"},{"key":"2025082711553020000_18.5.e264596.8","doi-asserted-by":"publisher","DOI":"10.1053\/jhep.2002.36088"},{"key":"2025082711553020000_18.5.e264596.9","doi-asserted-by":"publisher","DOI":"10.1053\/gast.2001.23984"},{"key":"2025082711553020000_18.5.e264596.10","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jpedsurg.2007.03.029","article-title":"Partial internal biliary diversion through a cholecystojejunocolonic anastomosis--a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report","volume":"42","author":"Bustorff-Silva","year":"2007","journal-title":"J Pediatr Surg"},{"key":"2025082711553020000_18.5.e264596.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2018.07.010"},{"key":"2025082711553020000_18.5.e264596.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(03)00286-1"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-264596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:55:40Z","timestamp":1756320940000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-264596"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,5,28]]},"published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1136\/bcr-2024-264596"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-264596","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,5]]}}}