Dataset Information
Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children.
Ontology highlight
ABSTRACT: Background
Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.Methods
The information of four Chinese patients with NSC caused by mutations in DCDC2 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.Results
All patients presented with jaundice, hepatosplenomegaly, hyperbilirubinemia and bile embolism, and high serum γ-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 > T /p.? and c.544G > A /p. Gly182Arg in the DCDC2.Conclusion
This study expands the genetic spectrum of DCDC2 in NSC.
SUBMITTER: Wei X
PROVIDER: S-EPMC9935677 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
Publications
Neonatal sclerosing cholangitis with novel mutations in <i>DCDC2</i> (doublecortin domain-containing protein 2) in Chinese children.
Frontiers in pediatrics 20230203
<h4>Background</h4>Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in <i>DCDC2</i>, commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.<h4>Methods</h4>The information of four Chinese patients with NSC caused by mutations in <i>DCDC2</i> from Children's Hospital of Fudan University were gathered. The four patients' clinicopathological and molecular features were summarized by clinical ...[more]