{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:50:35Z","timestamp":1788306635186,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T00:00:00Z","timestamp":1679875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Liver International"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neonatal sclerosing cholangitis (NSC) is associated with progressing biliary fibrosis that often requires liver transplantation in childhood. Several recent studies have identified variants in <jats:italic>DCDC2<\/jats:italic>, encoding doublecortin domain\u2010containing protein 2 (DCDC2), expressed in primary cilia, that accompany syndromic disease and NSC. We report four patients with hepatobiliary disease associated with two novel homozygous or compound heterozygous variants in <jats:italic>DCDC2<\/jats:italic>. Three patients with protein\u2010truncating variants in <jats:italic>DCDC2<\/jats:italic>, expressing no DCDC2, presented with the originally described severe hepatic phenotype in infancy. One patient with a novel homozygous <jats:italic>DCDC2<\/jats:italic> missense variant shows a markedly milder phenotype only manifest in childhood and with retained DCDC2 expression. Concomitant nephronophthisis is present in three patients and learning disability in two. This report widens the phenotypic spectrum of <jats:italic>DCDC2<\/jats:italic>\u2010associated hepatobiliary disease. Testing for DCDC2 expression and <jats:italic>DCDC2<\/jats:italic> variants should be included in the evaluation of cholangiopathy of unknown aetiology in childhood as well as in infancy.<\/jats:p>","DOI":"10.1111\/liv.15563","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T09:08:09Z","timestamp":1679303289000},"page":"1089-1095","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic known and novel <scp><i>DCDC2<\/i><\/scp> variants in cholestatic liver disease: Phenotype\u2013genotype observations in four children"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1597-0486","authenticated-orcid":false,"given":"Aline","family":"Azabdaftari","sequence":"first","affiliation":[{"name":"Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"},{"name":"Berlin Institute of Health (BIH)  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3836-163X","authenticated-orcid":false,"given":"Henrike L.","family":"Sczakiel","sequence":"additional","affiliation":[{"name":"Berlin Institute of Health (BIH)  Berlin Germany"},{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"},{"name":"Max Planck Institute for Molecular Genetics, RG Development &amp; Disease  Ihnestr. 63\u201073 Berlin 14195 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6631-3198","authenticated-orcid":false,"given":"Magdalena","family":"Danyel","sequence":"additional","affiliation":[{"name":"Berlin Institute of Health (BIH)  Berlin Germany"},{"name":"Institute of Medical Genetics and Human Genetics Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0685-689X","authenticated-orcid":false,"given":"Benno","family":"Kohlmaier","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Medical University of Graz  Auenbruggerplatz 34\/2 Graz 8036 Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph J.","family":"Mache","sequence":"additional","affiliation":[{"name":"Department of General Paediatrics Medical University of Graz  Auenbruggerplatz 34\/2 Graz 8036 Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8438-8692","authenticated-orcid":false,"given":"Amelie","family":"Stalke","sequence":"additional","affiliation":[{"name":"Division of Paediatric Gastroenterology and Hepatology Department of Paediatric Liver, Kidney and Metabolic Diseases Hannover Medical School  Hannover Germany"},{"name":"Department of Human Genetics Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2446-4304","authenticated-orcid":false,"given":"Eva\u2010Doreen","family":"Pfister","sequence":"additional","affiliation":[{"name":"Division of Paediatric Gastroenterology and Hepatology Department of Paediatric Liver, Kidney and Metabolic Diseases Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1162-5295","authenticated-orcid":false,"given":"Julia","family":"Thumfart","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Henning","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. S.","family":"Knisely","sequence":"additional","affiliation":[{"name":"Diagnostik\u2010 und Forschungsinstitut f\u00fcr Pathologie Medizinische Universit\u00e4t Graz  Neue Stiftingtalstrasse 6 Graz 8010 Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5742-8273","authenticated-orcid":false,"given":"Philip","family":"Bufler","sequence":"additional","affiliation":[{"name":"Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases Charit\u00e9\u2010Universit\u00e4tsmedizin Berlin, corporate member of Freie Universit\u00e4t Berlin and Humboldt\u2010Universit\u00e4t zu Berlin  Augustenburger Platz 1 Berlin 13353 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,27]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23031"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2016.07.017"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-0613-0"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2004.07.022"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106706"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.002"},{"issue":"8","key":"e_1_2_11_8_1","first-page":"623","article-title":"Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review","volume":"56","author":"Li JQ","year":"2018","journal-title":"Zhonghua Er Ke Za Zhi Chin J Pediatrics"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv009"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/498992"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14012"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61440"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2011.07.004"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_15_1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1007\/s15014-019-1601-0","article-title":"Abstracts der 34. Jahrestagung der Gesellschaft f\u00fcr P\u00e4diatrische Gastroenterologie und Ern\u00e4hrung e. V","volume":"31","author":"Springer Medizin","year":"2019","journal-title":"P\u00e4diatrie"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000002403"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2020.02.015"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-020-02053-9"}],"container-title":["Liver International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.15563","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/liv.15563","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T02:19:35Z","timestamp":1702433975000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/liv.15563"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,27]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/liv.15563"],"URL":"https:\/\/doi.org\/10.1111\/liv.15563","archive":["Portico"],"relation":{},"ISSN":["1478-3223","1478-3231"],"issn-type":[{"value":"1478-3223","type":"print"},{"value":"1478-3231","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,27]]},"assertion":[{"value":"2022-11-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}