ArticlePediatric investigation2021
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.
Article in Pediatric investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Characterization of novel and recurrentJournal of neuromuscular diseases · 2026Article
- Pathogenic mechanisms and clinical insights intoJournal of neuromuscular diseases · 2025Article
- First branchial cleft anomalies in children: long-term outcome in 16 patients.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2025Article
- Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.Pediatric investigation · 2021Article
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Authors and funding
12 authors.
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Abstract
importanceFirst branchial cleft anomalies (FBCAs) are rare congenital malformations, accounting for < 8% of all branchial cleft anomalies. However, little is currently known about the cause of FBCAs at the molecular level.
objectiveTo identify genomic alterations related to the genetic etiology of FBCAs in Chinese children.
methodsWe performed whole-exome sequencing of samples from 10 pediatric patients with FBCAs. Data analysis was carried out using the Burrow-Wheeler Alignment software package, and the dbSNP database for comparisons. Rare variants were further validated by Sanger sequencing. Insertion/deletions (indels) were examined using the Genome Analysis Toolkit.
resultsWe identified 14 non-synonymous mutations in seven potential FBCA-susceptibility genes (
interpretationWe characterized the mutational landscape in pathways involved in development and differentiation in Chinese children with FBCA. The results identified potential pathogenic genes and mutations related to FBCA, and provide molecular-level support for the branchial theory of FBCA pathogenesis.
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