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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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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. |
format | Online Article Text |
id | pubmed-9935677 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
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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