{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T21:22:03Z","timestamp":1780435323813,"version":"3.54.1"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T00:00:00Z","timestamp":1644883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Liver diseases remain unexplained in up to 30% of adult patients; genetic analysis could help establish the correct diagnosis. In six adult patients with cryptogenic liver disease, we performed whole\u2010exome sequencing (WES) and evaluated the individual predisposition to progressive fatty liver disease by polygenic risk scores (PRS). In one patient, WES was allowed to diagnose the Hermansky\u2013Pudlak syndrome. In the other two patients, genetic variants in <jats:italic>LDLRAP1<\/jats:italic>\/<jats:italic>MSH6<\/jats:italic> and <jats:italic>ALDOB<\/jats:italic> genes were identified, contributing to explaining the clinical presentation and disease pathogenesis (50% diagnostic uptake). In the other three patients, rare variants with a high likelihood of disrupting protein function in <jats:italic>APOB<\/jats:italic>, <jats:italic>ATP7B, ABCB4<\/jats:italic> and <jats:italic>ATP8B1<\/jats:italic> were identified. One patient who developed hepatocellular carcinoma during the follow\u2010up had a high PRS value. The study supports the role of WES, combined with risk stratification by PRS and accurate clinical assessment in improving the diagnosis and informed management in patients with cryptogenic liver disease, a positive family history or severe fatty liver not fully accounted for by environmental triggers.<\/jats:p>","DOI":"10.1111\/liv.15185","type":"journal-article","created":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T04:03:37Z","timestamp":1644293017000},"page":"864-870","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series"],"prefix":"10.1111","volume":"42","author":[{"given":"Serena","family":"Pelusi","sequence":"first","affiliation":[{"name":"Precision Medicine \u2010 Department of Transfusion Medicine and Hematology Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano  Milan 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