{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T01:10:07Z","timestamp":1788916207772,"version":"build-2803163510"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T00:00:00Z","timestamp":1675382400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in <jats:italic>DCDC2<\/jats:italic>, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The information of four Chinese patients with NSC caused by mutations in <jats:italic>DCDC2<\/jats:italic> from Children's Hospital of Fudan University were gathered. The four patients' clinicopathological and molecular features were summarized by clinical data, liver biopsy, immunohistochemical, and molecular genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients presented with jaundice, hepatosplenomegaly, hyperbilirubinemia and bile embolism, and high serum <jats:italic>\u03b3<\/jats:italic>-glutamyl transferase activity (GGT). Liver biopsies revealed varying degrees of bile duct hyperplasia, portal-tract inflammation, and\/or fibrosis. Whole-exome sequencing (WES) found novel heterozygous variants of c.1024-1G\u2009&amp;gt;\u2009T \/p.? and c.544G\u2009&amp;gt;\u2009A \/p. Gly182Arg in the <jats:italic>DCDC2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study expands the genetic spectrum of <jats:italic>DCDC2<\/jats:italic> in NSC.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1094895","type":"journal-article","created":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T05:19:59Z","timestamp":1675401599000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese 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