ArticlePediatric research2020
Molecular findings in children with inherited intrahepatic cholestasis.
Article in Pediatric research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 19 citations in OpenAlex.
- [Analysis of the etiology and clinical indicators of infantile cholestasis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Article
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- The epidemiological characteristics of liver disease in hospitalized children: a 10-year single-center retrospective study.Frontiers in pediatrics · 2024Article
- Non-invasive biomarkers for identification of vanishing bile duct syndrome among children with acute cholestatic hepatitis.Translational pediatrics · 2023Article
- Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency.BMC gastroenterology · 2022Article
- Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.JPGN reports · 2022Article
- Etiology of neonatal cholestasis after emerging molecular diagnostics.Translational pediatrics · 2022Article
- Genetic spectrum and clinical characteristics of 3β-hydroxy-ΔOrphanet journal of rare diseases · 2021Article
- [Concern about liver disease in children].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic defects account for a substantial proportion of pediatric cholestasis. This study explored the molecular findings in a large cohort of Chinese patients with inherited cholestasis.
methodsBetween January 2012 and June 2016, 809 Chinese pediatric patients with suspected inherited intrahepatic cholestasis were evaluated by Sanger sequencing and/or panel sequencing.
resultsOf the 809 patients, 273 (33.7%) obtained a genetic diagnosis. The rate of positive genetic diagnosis in patients with disease onset at 0-3 month of age was higher than that in patients with disease onset at 4 month of age or later. There were 17 distinct genetic defects diagnosed. The top 4 resulted from mutations in SLC25A13 (44.3%), JAG1 (24.5%), ABCB11 (11.0%), and ATP8B1 (5.9%). All 17 genetic disorders were diagnosed in patients with disease onset at 0-3 months of age; but only 5 were diagnosed in patients with disease onset beyond 4 months of age. A total of 217 distinct pathogenic variants, including 41 novel variants, were identified. Ten recurrent mutations were detected in SLC25A13, ATP8B1, and CYP27A1. They accounted for 48.2% of the total 477 mutant alleles.
conclusionsThere were 17 distinct genetic disorders diagnosed in Chinese pediatric patients with inherited cholestasis.
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