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Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

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 cause...

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Autores principales: Wei, Xia, Fang, Yuan, Wang, Jian-She, Wang, Yi-Zhen, Zhang, Yuan, Abuduxikuer, Kuerbanjiang, Chen, Lian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935677/
https://www.ncbi.nlm.nih.gov/pubmed/36816379
http://dx.doi.org/10.3389/fped.2023.1094895
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author Wei, Xia
Fang, Yuan
Wang, Jian-She
Wang, Yi-Zhen
Zhang, Yuan
Abuduxikuer, Kuerbanjiang
Chen, Lian
author_facet Wei, Xia
Fang, Yuan
Wang, Jian-She
Wang, Yi-Zhen
Zhang, Yuan
Abuduxikuer, Kuerbanjiang
Chen, Lian
author_sort Wei, Xia
collection PubMed
description 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.
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spelling pubmed-99356772023-02-18 Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children Wei, Xia Fang, Yuan Wang, Jian-She Wang, Yi-Zhen Zhang, Yuan Abuduxikuer, Kuerbanjiang Chen, Lian Front Pediatr Pediatrics 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. Frontiers Media S.A. 2023-02-03 /pmc/articles/PMC9935677/ /pubmed/36816379 http://dx.doi.org/10.3389/fped.2023.1094895 Text en © 2023 Wei, Fang, Wang, Wang, Zhang, Abuduxikuer and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Wei, Xia
Fang, Yuan
Wang, Jian-She
Wang, Yi-Zhen
Zhang, Yuan
Abuduxikuer, Kuerbanjiang
Chen, Lian
Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title_full Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title_fullStr Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title_full_unstemmed Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title_short Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
title_sort neonatal sclerosing cholangitis with novel mutations in dcdc2 (doublecortin domain-containing protein 2) in chinese children
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9935677/
https://www.ncbi.nlm.nih.gov/pubmed/36816379
http://dx.doi.org/10.3389/fped.2023.1094895
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