{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T14:16:36Z","timestamp":1789654596834,"version":"4.0.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T00:00:00Z","timestamp":1722902400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JPGN rep."],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A recent nonsyndromic phenotype, newly linked to mutations in the ZFYVE19 gene, is characterized by the appearance of cholestasis accompanied by an increase in serum gamma\u2010glutamyltranspeptidase (GGT) from infancy or early childhood. Affected individuals generally present with hepatosplenomegaly and may develop portal hypertension. The disease is thought to be the result of cholangiocyte\u2010specific ciliary dysfunction, indicating a ciliopathy that appears to be limited to the liver. Here, we describe the case of an infant born to first\u2010degree consanguineous parents, in whom neonatal cholestasis accompanied by elevated GGT led to the discovery of a ZFYVE19 deficiency. The diagnosis was established following an in\u2010depth analysis of the complete exome sequencing.<\/jats:p>","DOI":"10.1002\/jpr3.12111","type":"journal-article","created":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T07:30:19Z","timestamp":1722929419000},"page":"552-556","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["ZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-2755-1423","authenticated-orcid":false,"given":"Dalal","family":"Ben Sabbahia","sequence":"first","affiliation":[{"name":"The Department of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Children Hospital Ibn Rochd University Hospital Casablanca Morocco"},{"name":"Faculty of Medicine and Pharmacy Hassan II University of Casablanca Casablanca Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Atrasssi","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Children Hospital Ibn Rochd University Hospital Casablanca Morocco"},{"name":"Faculty of Medicine and Pharmacy Hassan II University of Casablanca Casablanca Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nissrine","family":"Bennani","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmacy Hassan II University of Casablanca Casablanca Morocco"},{"name":"Central Service of Pathological Anatomy Ibn Rochd University Hospital Casablanca Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhakim","family":"Benmoussa","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Children Hospital Ibn Rochd University Hospital Casablanca Morocco"},{"name":"Faculty of Medicine and Pharmacy Hassan II University of Casablanca Casablanca Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelhak","family":"Abkari","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics III, Unit of Gastroenterology and Hepatology Pediatric, Abderrahim Harrouchi Children Hospital Ibn Rochd University Hospital Casablanca Morocco"},{"name":"Faculty of Medicine and Pharmacy Hassan II University of Casablanca Casablanca Morocco"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106706"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01775-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-019-0679-x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001334"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2014.00065"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2023.041"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0288-x"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1061535"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.30982"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2017.06.006"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.24964"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphar.2023.1173542"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.4254\/wjh.v13.i12.2024"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.12111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T07:29:08Z","timestamp":1732692548000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.12111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,6]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/jpr3.12111"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.12111","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,6]]},"assertion":[{"value":"2024-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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